ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580414187
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1754551
ClinVar RCV Id:
RCV002364632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Glu2210Gly
CA177354186
NM_017780.4:c.6629A>G