Canonical Allele Identifier: PA658668520
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478185
ClinVar RCV Id: RCV000551114 RCV000764199 RCV000623122 RCV001797108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4493Ala
CA059891
NM_000540.3:c.13477C>G