ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335827
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215523
ClinVar RCV Id:
RCV000195666
RCV000610187
RCV001125861
RCV001657985
RCV003907743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Thr558Arg
CA335826
NM_017950.4:c.1673C>G