ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915981437
Gene: ASXL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056153.2:p.Ser444Leu
CA9808335
NM_015338.6:c.1331C>T