ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828108039
Gene: ASXL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2991813
ClinVar RCV Id:
RCV003852876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350663.1:p.Leu1243Ile
CA9808923
NM_001363734.1:c.3727C>A