Canonical Allele Identifier: PA097201
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56459
ClinVar RCV Id: RCV000049872

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Trp681Cys
CA250163
NM_004646.4:c.2043G>T
CA405397784
NM_004646.4:c.2043G>C