Allele Registry

Canonical Allele Identifier: PA096658

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV000049880

ClinVar Variation:

56467

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Ala739Val	CA250174 NM_004646.4:c.2216C>T