Canonical Allele Identifier: PA231825
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65924
ClinVar RCV Id: RCV000056171 RCV000119471
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4329Asp
CA024025
NM_000540.3:c.12986C>A