Canonical Allele Identifier: PA231960
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65932
ClinVar RCV Id: RCV000056179 RCV000119585 RCV001588884 RCV002513730
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp60Asn
CA024309
NM_000540.3:c.178G>A