ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726296
Gene: CHD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
844852
ClinVar RCV Id:
RCV001047805
RCV002489599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Gly2561Glu
CA177325582
NM_017780.4:c.7682G>A