Canonical Allele Identifier: PA2828538363
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289043
ClinVar RCV Id: RCV000268753 RCV002518064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Asp247Asn
CA10606306
NM_001374695.1:c.739G>A