Canonical Allele Identifier: PA105244
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12967
ClinVar RCV Id: RCV000013833 RCV000013834 RCV000119625 RCV000806352 RCV001787706 RCV001787708 RCV001787710 RCV001787711 RCV001787402 RCV001787707 RCV001787709 RCV004017239
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg163Cys
CA018598
NM_000540.3:c.487C>T