ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830249032
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93132
ClinVar RCV Id:
RCV000078956
RCV000542709
RCV001573036
RCV002311559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Gln507Glu
CA146679
NM_138270.5:c.1519C>G