Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2828538632

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_001361624.1:p.Ser544Arg	CA5293921 NM_001374695.1:c.1632C>G CA375314944 NM_001374695.1:c.1630A>C CA375314953 NM_001374695.1:c.1632C>A