ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645399331
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423118
ClinVar RCV Id:
RCV000485513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Leu1363His
CA16618668
NM_017780.4:c.4088T>A