ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074700471
Gene: CHD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Glu1271Lys
CA371316159
NM_017780.4:c.3811G>A