Canonical Allele Identifier: PA231949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65935
ClinVar RCV Id: RCV000056182 RCV000119573 RCV001854160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu512Lys
CA024284
NM_000540.3:c.1534G>A