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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:
CA2695213026
Gene: HBB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225725_5225728dup , CM000673.2:g.5225725_5225728dup
GRCh38
NC_000011.9:g.5246955_5246958dup , CM000673.1:g.5246955_5246958dup
GRCh37
NC_000011.8:g.5203531_5203534dup
NCBI36
NG_000007.3:g.71888_71891dup
NG_059281.1:g.6344_6347dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.316-2_317dup
ENST00000335295.4:c.316-2_317dup
ENST00000475226.1:n.248-2_249dup
ENST00000633227.1:c.*132-2_*133dup
NM_000518.4:c.316-2_317dup
NM_000518.5:c.316-2_317dup
Search 100 bp 5'
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