ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129631
Gene: CEP152
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000024028
RCV000145604
RCV000968712
ClinVar Variation:
31034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055800.2:p.Lys667Arg
CA129630
NM_014985.4:c.2000A>G