Canonical Allele Identifier: PA2580146972
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2109477
ClinVar RCV Id: RCV003038379 RCV003479463 RCV004009269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr2318His
CA405667266
NM_001042723.2:c.6952T>C