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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:
CA2200883173
Gene: HBA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1902164568
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177209del , CM000678.2:g.177209del
GRCh38
NC_000016.9:g.227208del , CM000678.1:g.227208del
GRCh37
NC_000016.8:g.167208del
NCBI36
NG_000006.1:g.38072del
NG_059186.1:g.5559del
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.301-74del
MANE Select
ENSP00000322421.5:n.301-74del
ENST00000397797.1:c.205-74del
ENSP00000380899.1:n.205-74del
ENST00000472694.1:n.437-74del
ENST00000487791.1:n.345del
NM_000558.4:c.301-74del
NP_000549.1:n.301-74del
NM_000558.5:c.301-74del
MANE Select
NP_000549.1:n.301-74del
Search 100 bp 5'
Search 100 bp 3'