ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499280960
Gene: ASXL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056153.2:p.Pro581Leu
CA9808439
NM_015338.6:c.1742C>T