Canonical Allele Identifier: PA2827067217
Gene: DEGS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474900
ClinVar RCV Id: RCV001973720 RCV002573418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308471.1:p.Gly234Ala
CA1413686
NM_001321542.2:c.701G>C