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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:
CA2790275155
Gene: HBB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225745dup , CM000673.2:g.5225745dup
GRCh38
NC_000011.9:g.5246975dup , CM000673.1:g.5246975dup
GRCh37
NC_000011.8:g.5203551dup
NCBI36
NG_000007.3:g.71871dup
NG_059281.1:g.6327dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647020.1:c.316-19dup
ENSP00000494175.1:n.316-19dup
ENST00000335295.4:c.316-19dup
MANE Select
ENSP00000333994.3:n.316-19dup
ENST00000475226.1:n.248-19dup
ENST00000633227.1:c.*132-19dup
ENSP00000488004.1:n.*132-19dup
NM_000518.4:c.316-19dup
NP_000509.1:n.316-19dup
NM_000518.5:c.316-19dup
MANE Select
NP_000509.1:n.316-19dup
Search 100 bp 5'
Search 100 bp 3'