Canonical Allele Identifier: PA105689
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12964
ClinVar RCV Id: RCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg614Cys
CA024311
NM_000540.3:c.1840C>T