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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:
CA1380113802
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.84431837_84431838delinsCA , CM000665.2:g.84431837_84431838delinsCA
GRCh38
NC_000003.11:g.84480988_84480989delinsCA , CM000665.1:g.84480988_84480989delinsCA
GRCh37
NC_000003.10:g.84563678_84563679delinsCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'