Canonical Allele Identifier: PA891865259
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590412
ClinVar RCV Id: RCV001868378

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4227Ser
CA308109044
NM_000540.3:c.12679G>T