Allele Registry

Canonical Allele Identifier: PA096742

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71069

ClinVar RCV:

RCV000049843

RCV001040489

ClinVar Variation:

56430

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Arg407Trp	CA250107 NM_004646.4:c.1219C>T