Allele Registry

Canonical Allele Identifier: PA097230

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000007278

RCV001851717

ClinVar Variation:

6875

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Val822Met	CA250042 NM_004646.4:c.2464G>A