Canonical Allele Identifier: PA2827714983
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1696906
ClinVar RCV Id: RCV002267252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Tyr612Cys
CA375314480
NM_001353196.2:c.1835A>G