Canonical Allele Identifier: PA146803
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93265
ClinVar RCV Id: RCV000079142 RCV000119615 RCV000209973 RCV000260420 RCV000555541 RCV001125254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1342Gly
CA024415
NM_000540.3:c.4024A>G