Canonical Allele Identifier: PA2573064819
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1339209
ClinVar RCV Id: RCV001823663
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu630Val
CA405694189
NM_001042723.2:c.1888C>G