Canonical Allele Identifier: PA233343
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159864
ClinVar RCV Id: RCV000147451 RCV000855485 RCV001004921 RCV003998165 RCV001036190
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys3193Trp
CA024994
NM_000540.3:c.9579C>G