Canonical Allele Identifier: PA2825422737
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384970
ClinVar RCV Id: RCV001897863

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe4667Leu
CA060776
NM_001042723.2:c.13999T>C
CA405681886
NM_001042723.2:c.14001T>A
CA405681887
NM_001042723.2:c.14001T>G