Canonical Allele Identifier: PA1139727313
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889622
ClinVar RCV Id: RCV001123646 RCV002556671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Arg460Trp
CA9390450
NM_004646.4:c.1378C>T