Canonical Allele Identifier: PA2829464974
Gene: DEGS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2244139
ClinVar RCV Id: RCV002757421
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003667.1:p.Trp45Cys
CA344708573
NM_003676.4:c.135G>C
CA344708575
NM_003676.4:c.135G>T