Canonical Allele Identifier: PA250118
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56437
ClinVar RCV Id: RCV000049850 RCV002513690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Ile446Asn
CA250116
NM_004646.4:c.1337T>A