ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA151137
Gene: NGLY1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000114363
ClinVar Variation:
126423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138766.1:p.Arg360del
CA151136
NM_001145294.2:c.1079_1081del