ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA336042
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215897
ClinVar RCV Id:
RCV000195936
RCV001094485
RCV001357838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Asp673Asn
CA336041
NM_017950.4:c.2017G>A