Canonical Allele Identifier: PA645375193
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259483
ClinVar RCV Id: RCV000243577 RCV000588978 RCV001122045 RCV001272306 RCV002294139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Val43Ala
CA9390907
NM_004646.4:c.128T>C