Canonical Allele Identifier: PA097139
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56446
ClinVar RCV Id: RCV000049859

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Ser569Arg
CA250134
NM_004646.4:c.1707C>G
CA405399722
NM_004646.4:c.1707C>A
CA405399728
NM_004646.4:c.1705A>C