Canonical Allele Identifier: PA891865179
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590580
ClinVar RCV Id: RCV000721636 RCV001258048 RCV001862100
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2354Met
CA082317
NM_000540.3:c.7060G>A