Canonical Allele Identifier: PA2825423069
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65948
ClinVar RCV Id: RCV000056195 RCV000119554 RCV001382210
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly4894Glu
CA024237
NM_001042723.2:c.14681G>A