Canonical Allele Identifier: PA110156
Gene: PMM2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Val44Leu
CA394695252
NM_000303.3:c.130G>C
CA394695254
NM_000303.3:c.130G>T