ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891863258
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
591546
ClinVar RCV Id:
RCV000722727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Lys1800Thr
CA371321335
NM_017780.4:c.5399A>C