Canonical Allele Identifier: PA2827716149
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373779
ClinVar RCV Id: RCV000413914 RCV002506004 RCV002524658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Arg568Leu
CA5293830
NM_001353198.2:c.1703G>T