Canonical Allele Identifier: PA2827714588
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416325
ClinVar RCV Id: RCV001947857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Val171Met
CA375307252
NM_001353196.2:c.511G>A
CA2573144012
NM_001353196.2:c.510_511delinsGA