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: PA2827717231

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039569

ClinVar RCV Id: RCV002907915 RCV003134521 RCV003274065

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Ser522Arg	CA5293921 NM_001353200.2:c.1566C>G CA375314944 NM_001353200.2:c.1564A>C CA375314953 NM_001353200.2:c.1566C>A