ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109922
Gene: PMM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000294.1:p.Leu32Arg
CA220630
NM_000303.3:c.95_96delinsGC
CA340690
NM_000303.3:c.95T>G