Allele Registry

Canonical Allele Identifier: PA658682249

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV001127721

RCV001277293

RCV002060249

RCV003942697

ClinVar Variation:

447874

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ala540Glu	CA9390387 NM_004646.4:c.1619C>A