ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197646
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2494843
ClinVar RCV Id:
RCV003216242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303619.1:p.Ala665Thr
CA4760954
NM_001316690.1:c.1993G>A