Allele Registry

Canonical Allele Identifier: PA250118

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71076

ClinVar RCV:

RCV000049850

RCV002513690

ClinVar Variation:

56437

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ile446Asn	CA250116 NM_004646.4:c.1337T>A