Canonical Allele Identifier: PA915962519
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133178
ClinVar RCV Id: RCV000119677 RCV001588958
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2344Asp
CA024673
NM_001042723.2:c.7032G>C
CA405667776
NM_001042723.2:c.7032G>T