Canonical Allele Identifier: PA915962268
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329029
ClinVar RCV Id: RCV000270553 RCV000306888 RCV000364887 RCV000369799 RCV001224473
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val1494Ala
CA066143
NM_001042723.2:c.4481T>C