Allele Registry

Canonical Allele Identifier: PA097095

Gene: NPHS1 HGNC NCBI

ClinVar Allele:

71081

ClinVar RCV:

RCV000049855

RCV002513691

ClinVar Variation:

56442

HGVS (amino-acid)	Matching Registered Transcripts
NP_004637.1:p.Pro519Ser	CA250125 NM_004646.4:c.1555C>T