Allele Registry

Canonical Allele Identifier: PA1139727570

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

918513

ClinVar RCV:

RCV001195709

RCV002560207

RCV003132258

ClinVar Variation:

930199

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Arg802Gln	CA9390141 NM_004646.4:c.2405G>A