Allele Registry

Canonical Allele Identifier: PA096640

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71133

ClinVar RCV:

RCV000049907

RCV001169934

RCV003330420

ClinVar Variation:

56494

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ala107Thr	CA250221 NM_004646.4:c.319G>A