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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:
CA2208348644
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614368_12614372delinsCAGTA , CM000678.2:g.12614368_12614372delinsCAGTA
GRCh38
NC_000016.9:g.12708225_12708229delinsCAGTA , CM000678.1:g.12708225_12708229delinsCAGTA
GRCh37
NC_000016.8:g.12615726_12615730delinsCAGTA
NCBI36
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