ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828479405
Gene: NPHP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361185.1:p.Glu35Gly
CA1827502
NM_001374256.1:c.104A>G