Canonical Allele Identifier: PA2741816887
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699104
ClinVar RCV Id: RCV003592490
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4400_Gly4401dup
CA2697556511
NM_000540.3:c.13197_13202dup