ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487487
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262714
ClinVar RCV Id:
RCV000248210
RCV000542228
RCV001722363
RCV002294209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Phe1324Ser
CA2621594
NM_153240.5:c.3971T>C