Canonical Allele Identifier: PA2825419393
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073918
ClinVar RCV Id: RCV004012460

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu230Val
CA405679637
NM_001042723.2:c.688C>G