ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068969885
Gene: NGLY1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060767.2:p.Ile105Thr
CA351909620
NM_018297.3:c.314T>C