Canonical Allele Identifier: PA645456488
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285857
ClinVar RCV Id: RCV000287938 RCV000293888 RCV000351106 RCV000389289 RCV000539271 RCV000721359 RCV001450014 RCV002487228
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4757His
CA061023
NM_000540.3:c.14270G>A