ClinGen Allele Registry
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Canonical Allele Identifier:
PA645468462
Gene: PMM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000294.1:p.Phe31Leu
CA7893884
NM_000303.3:c.91T>C
CA7893886
NM_000303.3:c.93C>A
CA394695177
NM_000303.3:c.93C>G