Canonical Allele Identifier: PA2825816746
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597449
ClinVar RCV Id: RCV000733573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Leu344Phe
CA5293684
NM_001136114.2:c.1030C>T