Canonical Allele Identifier: PA2828538438
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471375
ClinVar RCV Id: RCV000558807 RCV003459248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Trp334Ser
CA5293687
NM_001374695.1:c.1001G>C