ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211043
Gene: CEP152
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158247
ClinVar RCV Id:
RCV000145618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055800.2:p.Glu943Lys
CA211041
NM_014985.4:c.2827G>A