Canonical Allele Identifier: PA306764
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 201152
ClinVar RCV Id: RCV000210653 RCV000542897 RCV000721259 RCV002288788 RCV003147380 RCV003114333
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser4028Leu
CA023962
NM_000540.3:c.12083C>T