Canonical Allele Identifier: PA096721
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56421
ClinVar RCV Id: RCV000049834 RCV001380444 RCV002294007 RCV003415816
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Arg367Cys
CA250087
NM_004646.4:c.1099C>T