ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830248739
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387600
ClinVar RCV Id:
RCV000433610
RCV001833548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Arg173Cys
CA10458285
NM_138270.5:c.517C>T