Canonical Allele Identifier: PA2825423065
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12975
ClinVar RCV Id: RCV000013843 RCV000013844 RCV000119552 RCV000535754 RCV000763430 RCV001787754 RCV001787756 RCV001787758 RCV001787760 RCV001787755 RCV001787757 RCV001787759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile4893Thr
CA024233
NM_001042723.2:c.14678T>C