Canonical Allele Identifier: PA231931
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65997
ClinVar RCV Id: RCV000056244 RCV000119558
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4920Asn
CA024246
NM_000540.3:c.14759C>A