Canonical Allele Identifier: PA2825815143
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95456
ClinVar RCV Id: RCV000177268 RCV002477237 RCV001376971 RCV004529856 RCV003155069 RCV003474682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Glu44Asp
CA222993
NM_001136113.2:c.132A>C
CA375305548
NM_001136113.2:c.132A>T