ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826541967
Gene: CEP164
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258862.1:p.Pro127Leu
CA6294413
NM_001271933.2:c.380C>T