ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580566062
Gene: DEGS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996801.2:p.Gly100Ser
CA7343812
NM_206918.3:c.298G>A