ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319218
Gene: ASXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2071249
ClinVar RCV Id:
RCV002949259
RCV003274108
RCV003936463
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356276.1:p.Val1017Ala
CA1557417
NM_001369347.1:c.3050T>C