Canonical Allele Identifier: PA2826800400
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 291103
ClinVar RCV Id: RCV000284900 RCV001086833 RCV000765251 RCV004537620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Ser372Arg
CA553978
NM_001291593.2:c.1114A>C
CA338057473
NM_001291593.2:c.1116T>G
CA338057474
NM_001291593.2:c.1116T>A