ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826434402
Gene: CEP41
HGNC
NCBI
Linked Data
ClinVar Variation Id:
358940
ClinVar RCV Id:
RCV000794924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244088.1:p.Arg247Lys
CA4485410
NM_001257159.2:c.740G>A