ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197678
Gene: CHD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303619.1:p.Gly866Val
CA4761063
NM_001316690.1:c.2597G>T