ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825665196
Gene: NPHP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121650.1:p.Pro39Thr
CA154142
NM_001128178.3:c.115C>A