Canonical Allele Identifier: PA2827714249
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003504
ClinVar RCV Id: RCV001300065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Leu359Val
CA375311949
NM_001353195.2:c.1075C>G