Canonical Allele Identifier: PA2573171508
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502395
ClinVar RCV Id: RCV002020218

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4248Val
CA405671059
NM_000540.3:c.12743C>T