Canonical Allele Identifier: PA645458125
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161364
ClinVar RCV Id: RCV000148794 RCV000342699 RCV000382065 RCV000285430 RCV000377673 RCV000487911 RCV001085867 RCV002051684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1679His
CA024479
NM_001042723.2:c.5036G>A