Canonical Allele Identifier: PA658805022
Gene: PMM2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Thr18Ser
CA7893858
NM_000303.3:c.53C>G
CA394694888
NM_000303.3:c.52A>T