Canonical Allele Identifier: PA097006
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56450
ClinVar RCV Id: RCV000049863 RCV001849304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Leu587Arg
CA250141
NM_004646.4:c.1760T>G