Canonical Allele Identifier: PA2825445186
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000003410
ClinVar Variation:
3254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070833.1:p.Met140del
CA278048
NM_001077365.2:c.418_420del