Canonical Allele Identifier: PA2573253980
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV002020326
ClinVar Variation:
1505076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009102.4:p.Leu31Gln
CA375305281
NM_007171.4:c.92T>A