Canonical Allele Identifier: PA2825198262
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2756551
ClinVar RCV Id: RCV003591494
ClinVar Variation Id: 2811490
ClinVar RCV Id: RCV003757467

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp1699Gly
CA405653750
NM_000540.3:c.5096A>G
CA2697556499
NM_000540.3:c.5096_5097delinsGA