Canonical Allele Identifier: PA2573179989
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1358132

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp1689Glu
CA066646
NM_001042723.2:c.5067C>G
CA405653555
NM_001042723.2:c.5067C>A