Canonical Allele Identifier: PA2828536174
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.Val72Leu
CA5293184
NM_001374690.1:c.214G>C
CA10605402
NM_001374690.1:c.214G>T