Canonical Allele Identifier: PA658804839
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544414
ClinVar RCV Id: RCV000655547

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4647Pro
CA405681239
NM_000540.3:c.13940T>C