Canonical Allele Identifier: PA097122
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56419
ClinVar RCV Id: RCV000049832 RCV001063172 RCV001849301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Ser350Pro
CA250083
NM_004646.4:c.1048T>C