Allele Registry

Canonical Allele Identifier: PA096940

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000049831

RCV003441734

ClinVar Variation:

56418

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Gly347Glu	CA250081 NM_004646.4:c.1040G>A