Canonical Allele Identifier: PA2827717241
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216744
ClinVar RCV Id: RCV004514607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Ser534Ala
CA375315087
NM_001353200.2:c.1600T>G