ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573305075
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1390586
ClinVar RCV Id:
RCV001891072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Arg125Trp
CA354588788
NM_153240.5:c.373C>T