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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA217112709
Gene: HBB
HGNC
NCBI
Linked Data
dbSNP Id:
rs33978082
MyVariant Identifiers:
chr11:g.5246922T>A (hg19)
chr11:g.5225692T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225692T>A , CM000673.2:g.5225692T>A
GRCh38
NC_000011.9:g.5246922T>A , CM000673.1:g.5246922T>A
GRCh37
NC_000011.8:g.5203498T>A
NCBI36
NG_000007.3:g.71924A>T
NG_059281.1:g.6380A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.350A>T
ENSP00000494175.1:p.His117Leu
ENST00000335295.4:c.350A>T
MANE Select
ENSP00000333994.3:p.His117Leu
ENST00000475226.1:n.282A>T
ENST00000633227.1:c.*166A>T
ENSP00000488004.1:n.*166A>T
NM_000518.4:c.350A>T
NP_000509.1:p.His117Leu
NM_000518.5:c.350A>T
MANE Select
NP_000509.1:p.His117Leu
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