Canonical Allele Identifier: PA097243
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56478
ClinVar RCV Id: RCV000049891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Val834Phe
CA250195
NM_004646.4:c.2500G>T