Canonical Allele Identifier: PA2827067041
Gene: DEGS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2244139
ClinVar RCV Id: RCV002757421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308470.1:p.Trp45Cys
CA344708573
NM_001321541.2:c.135G>C
CA344708575
NM_001321541.2:c.135G>T