Canonical Allele Identifier: PA915961521
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430199
ClinVar RCV Id: RCV000493471 RCV002527104 RCV002481571 RCV004003486
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg241His
CA069330
NM_001042723.2:c.722G>A