ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830248902
Gene: ATRX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Glu378Lys
CA331569057
NM_138270.5:c.1132G>A