ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826800750
Gene: NPHP4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Arg740Gln
CA553479
NM_001291593.2:c.2219G>A