Canonical Allele Identifier: PA2828538449
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 957859
ClinVar RCV Id: RCV001230922 RCV003490144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Arg348Gln
CA375311969
NM_001374695.1:c.1043G>A