ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425288
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288542
ClinVar RCV Id:
RCV000397708
RCV001082104
RCV001122308
RCV003977801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Asp990Asn
CA8814566
NM_017950.4:c.2968G>A