ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487398
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262691
ClinVar RCV Id:
RCV000252767
RCV001038847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Ile343Val
CA2622431
NM_153240.5:c.1027A>G