Canonical Allele Identifier: PA2741827277
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_001036188.1:p.Asp1699Gly
CA405653750
NM_001042723.2:c.5096A>G
CA2697556499
NM_001042723.2:c.5096_5097delinsGA