Canonical Allele Identifier: PA106182
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65964
ClinVar RCV Id: RCV000056211 RCV000119514
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4814Phe
CA024141
NM_000540.3:c.14440C>T