Canonical Allele Identifier: PA2827715059
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127493
ClinVar RCV Id: RCV003047817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Leu691Trp
CA375315484
NM_001353196.2:c.2072T>G