Allele Registry

Canonical Allele Identifier: PA096779

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000049882

RCV000797708

RCV001328086

ClinVar Variation:

56469

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Arg743Cys	CA250178 NM_004646.4:c.2227C>T