Canonical Allele Identifier: PA891851756
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582723
ClinVar RCV Id: RCV000706862 RCV001766563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys489Phe
CA405688509
NM_000540.3:c.1466G>T