Canonical Allele Identifier: PA915961486
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478239
ClinVar RCV Id: RCV000527642 RCV001770499 RCV002527956
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr183Ile
CA067179
NM_001042723.2:c.548C>T