ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830028217
Gene: CEP63
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001907021
ClinVar Variation:
1406907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079456.2:p.Ala264Ser
CA354628972
NM_025180.5:c.790G>T