ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828107471
Gene: ASXL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2578190
ClinVar RCV Id:
RCV003325789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350663.1:p.Asn123Tyr
CA408551822
NM_001363734.1:c.367A>T