Canonical Allele Identifier: PA2580129605
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1974115
ClinVar RCV Id: RCV002741221

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4263_Gly4264del
CA2580097178
NM_000540.3:c.12788_12793del