Allele Registry

Canonical Allele Identifier: PA097122

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71058

ClinVar RCV:

RCV000049832

RCV001063172

RCV001849301

ClinVar Variation:

56419

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ser350Pro	CA250083 NM_004646.4:c.1048T>C