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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:
CA2612162396
Gene: HBB
HGNC
NCBI
Linked Data
gnomAD v4:
11-5227156-A-AG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5227159dup , CM000673.2:g.5227159dup
GRCh38
NC_000011.9:g.5248389dup , CM000673.1:g.5248389dup
GRCh37
NC_000011.8:g.5204965dup
NCBI36
NG_000007.3:g.70459dup
NG_059281.1:g.4915dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.-136dup
ENSP00000494175.1:n.-136dup
ENST00000380315.2:c.-18-118dup
ENSP00000369671.2:n.-18-118dup
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