Canonical Allele Identifier: PA2827715928
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285055
ClinVar RCV Id: RCV000338793 RCV000376051 RCV000530614 RCV004535339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Gly344Arg
CA5293544
NM_001353198.2:c.1030G>A
CA375309062
NM_001353198.2:c.1030G>C