Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA157022

Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133589

ClinVar RCV Id: RCV000120102 RCV000966086 RCV002259643

ClinVar Variation Id: 1450166

ClinVar RCV Id: RCV001990002

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056153.2:p.Leu1325Phe	CA157020 NM_015338.6:c.3973C>T CA2573156975 NM_015338.6:c.3972_3973delinsCT