Canonical Allele Identifier: PA915961395
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224362
ClinVar RCV Id: RCV000209972 RCV000296805 RCV000399849 RCV000351450 RCV000721723 RCV001086341
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu30Val
CA073030
NM_001042723.2:c.89A>T