ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829884815
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2073337
ClinVar RCV Id:
RCV002944032
RCV003250664
RCV003906416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Ala2726Thr
CA4760960
NM_017780.4:c.8176G>A