ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109482
Gene: PMM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000294.1:p.Ala108Val
CA220618
NM_000303.3:c.323C>T