Canonical Allele Identifier: PA2827716972
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000032630
ClinVar Variation:
39435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Thr240Met
CA211172
NM_001353200.2:c.719C>T