Canonical Allele Identifier: PA106203
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133074
ClinVar RCV Id: RCV000119523 RCV001787959 RCV001787961 RCV001787962 RCV001787963 RCV001787964 RCV002281941 RCV001787958 RCV001787960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4838Val
CA024163
NM_000540.3:c.14512C>G