Allele Registry

Canonical Allele Identifier: PA096808

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71115

ClinVar RCV:

RCV000049889

RCV001853054

RCV003415818

ClinVar Variation:

56476

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Arg831Cys	CA250191 NM_004646.4:c.2491C>T