Canonical Allele Identifier: PA2825445389
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95469
ClinVar RCV Id: RCV000081495 RCV001328597 RCV000764803 RCV001341723 RCV004542790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070833.1:p.Pro251Leu
CA223005
NM_001077365.2:c.752C>T