Allele Registry

Canonical Allele Identifier: PA097063

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71056

ClinVar RCV:

RCV000049830

RCV003421960

ClinVar Variation:

56417

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Pro340His	CA250079 NM_004646.4:c.1019C>A