Canonical Allele Identifier: PA2825817270
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1011985
ClinVar RCV Id: RCV001309872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.His608_Ter609insTyrAsnLysSerValAlaLysAsnThrArgAlaGlyValGlyMetArgLeuLysGlyLeuGlyGlnCysThr
CA375315543
NM_001136114.2:c.1827G>T
CA375315545
NM_001136114.2:c.1827G>C