ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677013
Gene: NPHP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Lys144Glu
CA2622607
NM_153240.5:c.430A>G