ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645424827
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260949
ClinVar RCV Id:
RCV000249620
RCV000529188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Ile407Thr
CA8813739
NM_017950.4:c.1220T>C