ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115659
Gene: NPHP3
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_694972.3:p.Gln1114Ter
NM_153240.5:c.3340C>T