ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825886842
Gene: NGLY1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138765.1:p.Glu326_Ala327delinsAsp
CA2289327
NM_001145293.2:c.978_980del