ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139693032
Gene: CHD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001262.3:p.Ser53Leu
CA7747449
NM_001271.4:c.158C>T