ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580413647
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1781152
ClinVar RCV Id:
RCV002412839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Gly614Ser
CA371312365
NM_017780.4:c.1840G>A