Canonical Allele Identifier: PA2825195210
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073918
ClinVar RCV Id: RCV004012460

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu230Val
CA405679637
NM_000540.3:c.688C>G