Allele Registry

Canonical Allele Identifier: PA101673

Gene: NAGS HGNC NCBI

ClinVar Allele:

17472

ClinVar RCV:

RCV000002535

ClinVar Variation:

2433

HGVS (amino-acid)	Matching Registered Transcripts
NP_694551.1:p.Trp484Arg	CA115550 NM_153006.3:c.1450T>C CA399728542 NM_153006.3:c.1450T>A