Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA1139669390

Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15250

ClinVar RCV Id: RCV000641506

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.His144Gln	CA217112242 NM_000518.5:c.432C>G CA217112246 NM_000518.5:c.432C>A