Canonical Allele Identifier: PA2825421889
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133032
ClinVar RCV Id: RCV000119454 RCV000148812 RCV001217179
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg4036Trp
CA023969
NM_001042723.2:c.12106C>T