Canonical Allele Identifier: PA2826801060
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 297808
ClinVar RCV Id: RCV000283252 RCV000338114 RCV000592408 RCV001379795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278523.1:p.Gly242Arg
CA554220
NM_001291594.2:c.724G>A
CA338059333
NM_001291594.2:c.724G>C