ClinGen Allele Registry
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Canonical Allele Identifier:
PA645418961
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422245
ClinVar RCV Id:
RCV000484621
RCV000709955
RCV001265457
RCV004551589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.Gly824Val
CA16619836
NM_020920.4:c.2471G>T