ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830249344
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388508
ClinVar RCV Id:
RCV000440229
RCV002522442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Glu835Gln
CA16608942
NM_138270.5:c.2503G>C