Canonical Allele Identifier: PA232097
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133204
ClinVar RCV Id: RCV000119715 RCV000210012 RCV001350615
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro2496Leu
CA024807
NM_000540.3:c.7487C>T