Canonical Allele Identifier: PA916035739
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3243
ClinVar RCV Id: RCV000003399 RCV000179928 RCV001264826 RCV001385876 RCV001813942 RCV003234890 RCV003472966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Ala83Pro
CA203493
NM_001353199.2:c.247G>C