Canonical Allele Identifier: PA2829936012
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1959867
ClinVar RCV Id: RCV002710473

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065971.2:p.Val117Leu
CA7091829
NM_020920.4:c.349G>C
CA7091830
NM_020920.4:c.349G>T