Allele Registry

Canonical Allele Identifier: PA096872

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71072

ClinVar RCV:

RCV000049846

ClinVar Variation:

56433

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Cys417Phe	CA250111 NM_004646.4:c.1250G>T