ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580413505
Gene: CHD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060250.2:p.Pro405Leu
CA371301848
NM_017780.4:c.1214C>T