ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829884818
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2880622
ClinVar RCV Id:
RCV003602790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Ala2726Ser
CA371307552
NM_017780.4:c.8176G>T