Allele Registry

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Canonical Allele Identifier: PA2827713123

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758

ClinVar RCV Id: RCV001900686

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Ser479Arg	CA375311694 NM_001353193.2:c.1435A>C CA375311709 NM_001353193.2:c.1437C>A CA375311712 NM_001353193.2:c.1437C>G