Canonical Allele Identifier: PA2825422764
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 583091
ClinVar RCV Id: RCV000707333 RCV003999786
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp4691His
CA405682453
NM_001042723.2:c.14071G>C