Canonical Allele Identifier: PA2825195759
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 945468
ClinVar RCV Id: RCV001216117 RCV002504261 RCV004010708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp590Tyr
CA062379
NM_000540.3:c.1768G>T