ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825665252
Gene: NPHP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121650.1:p.Asp125Val
CA348093119
NM_001128178.3:c.374A>T