ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487406
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288979
ClinVar RCV Id:
RCV000347274
RCV001214608
RCV004535419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Phe395Val
CA2622376
NM_153240.5:c.1183T>G