Canonical Allele Identifier: PA915961834
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328996
ClinVar RCV Id: RCV000293885 RCV000278670 RCV000351092 RCV000389411 RCV000996863 RCV000823531 RCV002521218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val786Ile
CA063123
NM_001042723.2:c.2356G>A