Canonical Allele Identifier: PA658682249
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447874
ClinVar RCV Id: RCV001277293 RCV001127721 RCV002060249 RCV003942697
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Ala540Glu
CA9390387
NM_004646.4:c.1619C>A