Canonical Allele Identifier: PA2825815330
Gene: POMT1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Thr230Ser
CA5293371
NM_001136113.2:c.688A>T
CA375307440
NM_001136113.2:c.689C>G