Allele Registry

Canonical Allele Identifier: PA645375597

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

227404

ClinVar RCV:

RCV000245697

RCV000490421

RCV000906876

RCV001127647

ClinVar Variation:

225423

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Val957Leu	CA9389997 NM_004646.4:c.2869G>C CA405386183 NM_004646.4:c.2869G>T