ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247993
Gene: ATRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199026
ClinVar RCV Id:
RCV001241409
RCV002485181
RCV000180509
RCV002433783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Glu928Gln
CA247992
NM_000489.5:c.2782G>C