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: PA916029535

Gene: PDGFRA HGNC NCBI

Linked Data

ClinVar Variation Id: 459033

ClinVar RCV Id: RCV000560051 RCV001262590 RCV002258945

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001334757.1:p.Met667Ile	CA356893638 NM_001347828.2:c.2001G>A CA356893639 NM_001347828.2:c.2001G>C CA356893640 NM_001347828.2:c.2001G>T