Canonical Allele Identifier: PA2741814410
Gene: PMM2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Val231Leu
CA394689577
NM_000303.3:c.691G>T
CA394689581
NM_000303.3:c.691G>C