ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580414042
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2195672
ClinVar RCV Id:
RCV002628854
RCV002628853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Val1698Met
CA371320349
NM_017780.4:c.5092G>A