Canonical Allele Identifier: PA658668478
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478177
ClinVar RCV Id: RCV000721297 RCV001082883 RCV001131808 RCV001131809 RCV001131810
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4294Ala
CA308109322
NM_000540.3:c.12880A>G