Canonical Allele Identifier: PA2828538683
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_001361624.1:p.Leu591Trp
CA375315484
NM_001374695.1:c.1772T>G