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Canonical Allele Identifier: Get Identifier
Gene: NGLY1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060767.2:p.Phe316Leu
CA351902023
NM_018297.3:c.948T>G
CA351902025
NM_018297.3:c.948T>A
CA351902034
NM_018297.3:c.946T>C