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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:
CA2517973804
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182199828_182199829insCGTTCTTTTCC , CM000663.2:g.182199828_182199829insCGTTCTTTTCC
GRCh38
NC_000001.10:g.182168963_182168964insCGTTCTTTTCC , CM000663.1:g.182168963_182168964insCGTTCTTTTCC
GRCh37
NC_000001.9:g.180435586_180435587insCGTTCTTTTCC
NCBI36
Search 100 bp 5'
Search 100 bp 3'