Canonical Allele Identifier: PA2828538409
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_001361624.1:p.Val305Ile
CA249339
NM_001374695.1:c.913G>A