Canonical Allele Identifier: PA173357
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159852
ClinVar RCV Id: RCV000147430 RCV000239106 RCV000342522 RCV000394130 RCV001288364 RCV000282746 RCV000298179 RCV000553661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro1632Ser
CA024469
NM_000540.3:c.4894C>T