ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829884859
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644287
ClinVar RCV Id:
RCV000798167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Asn2747Ser
CA371307880
NM_017780.4:c.8240A>G