ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425087
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000372636
RCV001094514
RCV003969926
ClinVar Variation:
325742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Ala796Gly
CA8814184
NM_017950.4:c.2387C>G