Canonical Allele Identifier: PA2580113336
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164040
ClinVar RCV Id: RCV003073502 RCV003943776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000294.1:p.Pro20Leu
CA394694905
NM_000303.3:c.59C>T