Canonical Allele Identifier: PA2827714240
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471375
ClinVar RCV Id: RCV000558807 RCV003459248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Trp347Ser
CA5293687
NM_001353195.2:c.1040G>C