Canonical Allele Identifier: PA2828538660
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_001361624.1:p.Leu567Phe
CA375315208
NM_001374695.1:c.1699C>T