ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645424945
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325734
ClinVar RCV Id:
RCV000374794
RCV001094522
RCV003910246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Gln580Arg
CA8814006
NM_017950.4:c.1739A>G