ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502558
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286996
ClinVar RCV Id:
RCV001080139
RCV000395711
RCV004535377
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Arg1284His
CA553438
NM_015102.5:c.3851G>A