Canonical Allele Identifier: PA250242
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56506
ClinVar RCV Id: RCV000049919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Cys160Ser
CA250240
NM_004646.4:c.479G>C
CA405409916
NM_004646.4:c.478T>A