Allele Registry

Canonical Allele Identifier: PA097151

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71086

ClinVar RCV:

RCV000049860

RCV000487117

ClinVar Variation:

56447

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ser572Asn	CA250136 NM_004646.4:c.1715G>A