ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232760
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1180765
ClinVar RCV Id:
RCV001557178
RCV001814494
RCV001824991
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Arg2085Cys
CA413701171
NM_000489.5:c.6253C>T