ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425194
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000476575
RCV000725355
ClinVar Variation:
283897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Val971Ile
CA8814549
NM_017950.4:c.2911G>A