Allele Registry

Canonical Allele Identifier: PA200835

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

21911

ClinVar RCV:

RCV000157397

RCV000174106

RCV000490526

RCV000879499

RCV001123648

RCV002294056

ClinVar Variation:

180461

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Glu447Lys	CA200833 NM_004646.4:c.1339G>A