ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830250141
Gene: ATRX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Arg2047Cys
CA413701171
NM_138270.5:c.6139C>T