Canonical Allele Identifier: PA106507
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133179
ClinVar RCV Id: RCV000119678 RCV001580429 RCV002514604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2346Met
CA024676
NM_000540.3:c.7036G>A