Allele Registry

Canonical Allele Identifier: PA096764

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71083

ClinVar RCV:

RCV000049857

ClinVar Variation:

56444

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Arg558Cys	CA250129 NM_004646.4:c.1672C>T