ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741964415
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2726883
ClinVar RCV Id:
RCV003499671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Leu2218Pro
CA4760625
NM_017780.4:c.6653T>C