Canonical Allele Identifier: PA2828538174
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802520
ClinVar RCV Id: RCV000988265
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.Leu592Pro
CA5293942
NM_001374693.1:c.1775T>C