Canonical Allele Identifier: PA2825423056
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590469
ClinVar RCV Id: RCV000721395

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala4889Asp
CA405690259
NM_001042723.2:c.14666C>A