Canonical Allele Identifier: PA2827712801
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Val72Leu
CA5293184
NM_001353193.2:c.214G>C
CA10605402
NM_001353193.2:c.214G>T