Canonical Allele Identifier: PA2825815245
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000081491
ClinVar Variation:
95465
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Arg151Thr
CA223001
NM_001136113.2:c.452G>C