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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:
CA2508680680
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472845_14472846insCG , CM000683.2:g.14472845_14472846insCG
GRCh38
NC_000021.8:g.15845166_15845167insCG , CM000683.1:g.15845166_15845167insCG
GRCh37
NC_000021.7:g.14767037_14767038insCG
NCBI36
Search 100 bp 5'
Search 100 bp 3'