ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826541966
Gene: CEP164
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421579
ClinVar RCV Id:
RCV000485423
RCV001089408
RCV003915334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258862.1:p.Pro127His
CA6294412
NM_001271933.2:c.380C>A