Canonical Allele Identifier: PA2827716279
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000081491
ClinVar Variation:
95465
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Arg34Thr
CA223001
NM_001353199.2:c.101G>C