Canonical Allele Identifier: PA2827713820
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3246
ClinVar RCV Id: RCV000175324 RCV002286391 RCV003764522 RCV003323349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Gln514His
CA116112
NM_001353194.2:c.1542G>C
CA375313581
NM_001353194.2:c.1542G>T