ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830528980
Gene: NPHP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997064.2:p.Glu676Gln
CA336743
NM_207181.4:c.2026G>C