Allele Registry

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.

Canonical Allele Identifier: PA2573179491

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476084

ClinVar RCV Id: RCV002008037 RCV004011032

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gly248Trp	CA069619 NM_001042723.2:c.742G>T