ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830249807
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493531
ClinVar RCV Id:
RCV000585485
RCV001416239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Arg1379Trp
CA413709531
NM_138270.5:c.4135C>T