ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826841233
Gene: CHD4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804941
ClinVar RCV Id:
RCV002471359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284482.1:p.Ala1129Val
CA383582777
NM_001297553.2:c.3386C>T