ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828107489
Gene: ASXL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350663.1:p.Ser176Phe
CA408552661
NM_001363734.1:c.527C>T