Canonical Allele Identifier: PA105718
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42105
ClinVar RCV Id: RCV000034932 RCV001363318
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn3326Lys
CA025011
NM_000540.3:c.9978C>A
CA405693240
NM_000540.3:c.9978C>G