Canonical Allele Identifier: PA2580155842
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708777
ClinVar RCV Id: RCV002288061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Ser2057Arg
CA388880268
NM_001170629.2:c.6171T>G
CA388880269
NM_001170629.2:c.6171T>A
CA388880275
NM_001170629.2:c.6169A>C