Canonical Allele Identifier: PA2828538082
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_001361622.1:p.Arg483Leu
CA5293830
NM_001374693.1:c.1448G>T