Allele Registry

Canonical Allele Identifier: PA236023

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000171282

RCV001808442

ClinVar Variation:

191103

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Thr1129Pro	CA236021 NM_004646.4:c.3385A>C