Canonical Allele Identifier: PA915962551
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430525
ClinVar RCV Id: RCV000493566

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser2374Leu
CA405668238
NM_001042723.2:c.7121C>T