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: PA2829183304

Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 954538

ClinVar RCV Id: RCV001227008

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001376559.1:p.Met87Ile	CA5954851 NM_001389630.1:c.261G>A CA380179962 NM_001389630.1:c.261G>C CA380179963 NM_001389630.1:c.261G>T