ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800485
Gene: CHD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520977
ClinVar RCV Id:
RCV000622848
RCV000722154
RCV000714488
RCV003325307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005271.2:p.Arg1044Trp
CA397940726
NM_001005271.3:c.3130C>T