Canonical Allele Identifier: PA2499233202
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037094
ClinVar RCV Id: RCV001340195 RCV003132431
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4746Met
CA060997
NM_000540.3:c.14236C>A