Canonical Allele Identifier: PA2825420329
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070663
ClinVar RCV Id: RCV004013173

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp1809Glu
CA067088
NM_001042723.2:c.5427C>G
CA405655188
NM_001042723.2:c.5427C>A