ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826801255
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291052
ClinVar RCV Id:
RCV000279729
RCV002059309
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Ala456Thr
CA553883
NM_001291594.2:c.1366G>A