Canonical Allele Identifier: PA2499233180
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038407
ClinVar RCV Id: RCV001341707 RCV003490204 RCV004035970
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4393Ser
CA405674028
NM_000540.3:c.13177G>A