Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573263365

Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1600584

ClinVar RCV Id: RCV002132467

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056153.2:p.Val1216Leu	CA9808868 NM_015338.6:c.3646G>C CA408563500 NM_015338.6:c.3646G>T