Canonical Allele Identifier: PA097063
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56417
ClinVar RCV Id: RCV000049830 RCV003421960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004637.1:p.Pro340His
CA250079
NM_004646.4:c.1019C>A