ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425294
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260970
ClinVar RCV Id:
RCV000243717
RCV000355943
RCV001094515
RCV001573244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Val1016Ile
CA8814614
NM_017950.4:c.3046G>A