ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658701517
Gene: CHD7
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060250.2:p.Arg1036Ter
NM_017780.4:c.3106C>T