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: PA2741827576

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689902

ClinVar RCV Id: RCV003491427

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Lys2189Asn	CA405665595 NM_001042723.2:c.6567A>C CA405665597 NM_001042723.2:c.6567A>T