ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830249543
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166712
ClinVar RCV Id:
RCV000152816
RCV001079208
RCV002516068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Cys1056Tyr
CA233502
NM_138270.5:c.3167G>A