Canonical Allele Identifier: PA2741816886
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3030362
ClinVar RCV Id: RCV004531900

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4399Leu
CA405674226
NM_000540.3:c.13196C>T