Canonical Allele Identifier: PA2825422164
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1974115
ClinVar RCV Id: RCV002741221

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu4258_Gly4259del
CA2580097178
NM_001042723.2:c.12773_12778del