ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056967
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660818
ClinVar RCV Id:
RCV000818099
RCV002495163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Asp2033Gly
CA4760516
NM_017780.4:c.6098A>G