ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499279595
Gene: CEP164
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008905
ClinVar RCV Id:
RCV001306317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055771.4:p.Glu43Gln
CA382722023
NM_014956.5:c.127G>C