Canonical Allele Identifier: PA096818
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188761
ClinVar RCV Id: RCV000169078 RCV001195706 RCV001328320 RCV001222912 RCV003390881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Arg976Ser
CA250310
NM_004646.4:c.2928G>T
CA405385565
NM_004646.4:c.2928G>C