Allele Registry

Canonical Allele Identifier: PA096721

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000049834

RCV001380444

RCV002294007

RCV003415816

ClinVar Variation:

56421

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Arg367Cys	CA250087 NM_004646.4:c.1099C>T