Canonical Allele Identifier: PA658804725
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500414
ClinVar RCV Id: RCV000595041 RCV000806473 RCV002483623 RCV004002462
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1670His
CA405653037
NM_000540.3:c.5009G>A