Allele Registry

Canonical Allele Identifier: PA2499284533

Gene: NADSYN1 HGNC NCBI

ClinVar RCV:

RCV001652036

RCV001779284

ClinVar Variation:

1248202

HGVS (amino-acid)	Matching Registered Transcripts
NP_060631.2:p.Val74Leu	CA6162860 NM_018161.5:c.220G>C CA381699824 NM_018161.5:c.220G>T