ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827318320
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659522
ClinVar RCV Id:
RCV000816546
RCV001124882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317437.1:p.Arg472Trp
CA8813812
NM_001330508.2:c.1414C>T