Canonical Allele Identifier: PA2825422326
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 892730
ClinVar RCV Id: RCV001129232 RCV001129233 RCV001129234 RCV002558265
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe4358Leu
CA059563
NM_001042723.2:c.13074C>A
CA405673404
NM_001042723.2:c.13072T>C
CA405673413
NM_001042723.2:c.13074C>G