ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828107988
Gene: ASXL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1516433
ClinVar RCV Id:
RCV002026592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350663.1:p.Pro1158Ser
CA9808870
NM_001363734.1:c.3472C>T