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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:
CA1508986922
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.163091722_163091727delinsACATGG , CM000666.2:g.163091722_163091727delinsACATGG
GRCh38
NC_000004.11:g.164012874_164012879delinsACATGG , CM000666.1:g.164012874_164012879delinsACATGG
GRCh37
NC_000004.10:g.164232324_164232329delinsACATGG
NCBI36
Search 100 bp 5'
Search 100 bp 3'