Canonical Allele Identifier: PA2825422960
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65925
ClinVar RCV Id: RCV000056172 RCV000119525 RCV001390401 RCV003996484
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala4841Val
CA024167
NM_001042723.2:c.14522C>T