ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827318069
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260974
ClinVar RCV Id:
RCV000251033
RCV002328746
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317437.1:p.Thr157Ile
CA8813446
NM_001330508.2:c.470C>T