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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:
CA2470649370
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14289446_14289450delinsTTCTA , CM000686.2:g.14289446_14289450delinsTTCTA
GRCh38
NC_000024.9:g.16401326_16401330delinsTTCTA , CM000686.1:g.16401326_16401330delinsTTCTA
GRCh37
NC_000024.8:g.14910720_14910724delinsTTCTA
NCBI36
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