Canonical Allele Identifier: PA2827717179
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283065
ClinVar RCV Id: RCV000325563 RCV000800012 RCV003278734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Arg447Gln
CA5293827
NM_001353200.2:c.1340G>A