Allele Registry

Canonical Allele Identifier: PA645375593

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

256865

ClinVar RCV:

RCV000242719

RCV000665537

RCV000883305

RCV001127648

RCV002294142

RCV003891928

ClinVar Variation:

259491

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ala916Ser	CA9390034 NM_004646.4:c.2746G>T