Canonical Allele Identifier: PA645375597
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225423
ClinVar RCV Id: RCV000245697 RCV000490421 RCV000906876 RCV001127647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Val957Leu
CA9389997
NM_004646.4:c.2869G>C
CA405386183
NM_004646.4:c.2869G>T