ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197680
Gene: CHD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303619.1:p.Gly896Glu
CA371312379
NM_001316690.1:c.2687G>A