Allele Registry

Canonical Allele Identifier: PA096670

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000049886

RCV000712426

ClinVar Variation:

56473

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ala806Asp	CA250185 NM_004646.4:c.2417C>A