ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826327127
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260953
ClinVar RCV Id:
RCV000250370
RCV002401959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230271.1:p.Glu511Gln
CA8813877
NM_001243342.2:c.1531G>C