ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573284022
Gene: CEP97
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002078977
ClinVar Variation:
1614931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078824.2:p.Leu399Phe
CA2522086
NM_024548.4:c.1195C>T