Canonical Allele Identifier: PA2827716516
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218515
ClinVar RCV Id: RCV000203138 RCV001079894 RCV000724979
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Val340Ile
CA249339
NM_001353199.2:c.1018G>A