Canonical Allele Identifier: PA232063
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133183
ClinVar RCV Id: RCV000119682 RCV000578408 RCV000803469 RCV001787993 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787994 RCV001787999 RCV002281944 RCV004017408 RCV000763425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2355Trp
CA024693
NM_000540.3:c.7063C>T