Canonical Allele Identifier: PA2825422141
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502395
ClinVar RCV Id: RCV002020218

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala4243Val
CA405671059
NM_001042723.2:c.12728C>T