Allele Registry

Canonical Allele Identifier: PA097243

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71117

ClinVar RCV:

RCV000049891

ClinVar Variation:

56478

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Val834Phe	CA250195 NM_004646.4:c.2500G>T