Canonical Allele Identifier: PA2825423012
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329137
ClinVar RCV Id: RCV000276585 RCV000334101 RCV000381623 RCV000368870 RCV002521226 RCV003317192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu4863Lys
CA061423
NM_001042723.2:c.14587G>A