Canonical Allele Identifier: PA2827714414
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3250
ClinVar RCV Id: RCV000414180 RCV000694423 RCV002286394 RCV003460409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Ala530Thr
CA116114
NM_001353195.2:c.1588G>A