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: PA2828107476

Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191160

ClinVar RCV Id: RCV000171344 RCV003137701

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350663.1:p.Ser141Arg	CA236144 NM_001363734.1:c.423C>A CA408552082 NM_001363734.1:c.421A>C CA408552095 NM_001363734.1:c.423C>G