Allele Registry

Canonical Allele Identifier: PA346565

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

178744

ClinVar RCV:

RCV000157398

RCV000671934

RCV000910963

RCV001127722

RCV002294057

RCV003917541

ClinVar Variation:

180462

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Thr537Met	CA346563 NM_004646.4:c.1610C>T