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: PA2827715984

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395773

ClinVar RCV Id: RCV001887254

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340127.2:p.Phe413Leu	CA375311401 NM_001353198.2:c.1237T>C CA375311412 NM_001353198.2:c.1239T>A CA375311413 NM_001353198.2:c.1239T>G