Canonical Allele Identifier: PA2827716017
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856405
ClinVar RCV Id: RCV001061860 RCV003132198 RCV002553908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Tyr448Cys
CA5293694
NM_001353198.2:c.1343A>G