Canonical Allele Identifier: PA2573064788
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306468
ClinVar RCV Id: RCV001760478

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu1732Asp
CA405654128
NM_001042723.2:c.5196A>C
CA405654130
NM_001042723.2:c.5196A>T