ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057551837
Gene: PMM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000294.1:p.Ile240Val
CA394689680
NM_000303.3:c.718A>G