Canonical Allele Identifier: PA2580146357
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2005003
ClinVar RCV Id: RCV002828423

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.His592Asp
CA405691840
NM_001042723.2:c.1774C>G