Canonical Allele Identifier: PA2827714395
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 546416
ClinVar RCV Id: RCV000658289 RCV001855370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Arg496Cys
CA5293866
NM_001353195.2:c.1486C>T