Allele Registry

Canonical Allele Identifier: PA3057565229

Gene: NPHS1 HGNC NCBI

ClinVar RCV:

RCV004799074

ClinVar Variation:

3384039

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Cys417Tyr	CA405405349 NM_004646.4:c.1250G>A