Canonical Allele Identifier: PA106531
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133040
ClinVar RCV Id: RCV000119464 RCV001450005 RCV003993811 RCV003591680
ClinVar Variation Id: 1071064
ClinVar RCV Id: RCV001383437 RCV001580405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val4234Leu
CA024001
NM_000540.3:c.12700G>C
CA405670953
NM_000540.3:c.12700G>T