ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573230108
Gene: DEGS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1474900
ClinVar RCV Id:
RCV001973720
RCV002573418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003667.1:p.Gly270Ala
CA1413686
NM_003676.4:c.809G>C