ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830248914
Gene: ATRX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
196188
ClinVar RCV:
RCV000180511
RCV002517764
RCV004537510
ClinVar Variation:
199028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612114.2:p.Lys387Gln
CA247996
NM_138270.5:c.1159A>C