Canonical Allele Identifier: PA2828536283
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.Thr230Ser
CA5293371
NM_001374690.1:c.688A>T
CA375307440
NM_001374690.1:c.689C>G