Allele Registry

Canonical Allele Identifier: PA097073

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000049837

RCV001853052

ClinVar Variation:

56424

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Pro368Leu	CA250094 NM_004646.4:c.1103C>T