Canonical Allele Identifier: PA2825422113
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590411
ClinVar RCV Id: RCV000721283 RCV001342559 RCV003999817
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe4213Leu
CA405670843
NM_001042723.2:c.12637T>C
CA405670848
NM_001042723.2:c.12639C>A
CA405670849
NM_001042723.2:c.12639C>G