ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017820
Gene: NPHP4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Ala598Val
CA223178
NM_001291594.2:c.1793C>T