Canonical Allele Identifier: PA1139673105
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 870943
ClinVar RCV Id: RCV001090644 RCV003987780
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4385Tyr
CA405673760
NM_000540.3:c.13153G>T