Canonical Allele Identifier: PA2827713352
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153859
ClinVar RCV Id: RCV003077828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Leu719Phe
CA375315208
NM_001353193.2:c.2155C>T