Canonical Allele Identifier: PA2825195218
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071054
ClinVar RCV Id: RCV004014556

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp238Val
CA405679821
NM_000540.3:c.713A>T