ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830250276
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1757416
ClinVar RCV Id:
RCV002367562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Arg2348Gln
CA413707105
NM_138270.5:c.7043G>A