ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580120088
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2439416
ClinVar RCV Id:
RCV003143685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Glu1450Gln
CA413708872
NM_000489.5:c.4348G>C