Canonical Allele Identifier: PA915961623
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544398
ClinVar RCV Id: RCV000655525 RCV000658830 RCV001729679 RCV002250674 RCV003334390 RCV004004138 RCV004525996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu417Pro
CA059053
NM_001042723.2:c.1250T>C