Canonical Allele Identifier: PA2825447330
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2157150
ClinVar RCV Id: RCV003079512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070834.1:p.Val636Leu
CA5293929
NM_001077366.2:c.1906G>T
CA375315137
NM_001077366.2:c.1906G>C