Canonical Allele Identifier: PA2828535549
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Val18Leu
CA5293184
NM_001374689.1:c.52G>C
CA10605402
NM_001374689.1:c.52G>T