Canonical Allele Identifier: PA2825816926
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498220
ClinVar RCV Id: RCV000712813 RCV000695707 RCV002470918 RCV002491186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Ala416Val
CA5293760
NM_001136114.2:c.1247C>T