Allele Registry

Canonical Allele Identifier: PA250242

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71145

ClinVar RCV:

RCV000049919

ClinVar Variation:

56506

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Cys160Ser	CA250240 NM_004646.4:c.479G>C CA405409916 NM_004646.4:c.478T>A