Canonical Allele Identifier: PA2825817194
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003439
ClinVar RCV Id: RCV001299990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Thr576Met
CA5293932
NM_001136114.2:c.1727C>T