ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197649
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_001303619.1:p.Ala682Thr
CA371307638
NM_001316690.1:c.2044G>A