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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:
CA2574735717
Gene: HBB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5227106del , CM000673.2:g.5227106del
GRCh38
NC_000011.9:g.5248336del , CM000673.1:g.5248336del
GRCh37
NC_000011.8:g.5204912del
NCBI36
NG_000007.3:g.70512del
NG_059281.1:g.4968del
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.-83del
ENSP00000494175.1:n.-83del
ENST00000380315.2:c.-18-65del
ENSP00000369671.2:n.-18-65del
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