Canonical Allele Identifier: PA1139673083
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931314
ClinVar RCV Id: RCV001197764

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4382Asp
CA405673710
NM_000540.3:c.13145G>A