ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829884832
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2198967
ClinVar RCV Id:
RCV002634020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Ala2731Thr
CA371307638
NM_017780.4:c.8191G>A