ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573195397
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1380519
ClinVar RCV Id:
RCV001886383
RCV002490103
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Ala828Thr
CA17124873
NM_001291594.2:c.2482G>A