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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
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Canonical Allele Identifier:
CA1839251871
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.22134038_22134046delinsTTCTTTGTC , CM000671.2:g.22134038_22134046delinsTTCTTTGTC
GRCh38
NC_000009.11:g.22134037_22134045delinsTTCTTTGTC , CM000671.1:g.22134037_22134045delinsTTCTTTGTC
GRCh37
NC_000009.10:g.22124037_22124045delinsTTCTTTGTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'