Allele Registry

Canonical Allele Identifier: PA096899

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71092

ClinVar RCV:

RCV000049866

RCV000811777

RCV001849305

ClinVar Variation:

56453

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Cys623Phe	CA250148 NM_004646.4:c.1868G>T