ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829884808
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393105
ClinVar RCV Id:
RCV001912487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Lys2722Gln
CA371307446
NM_017780.4:c.8164A>C