ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230883
Gene: PMM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1284906
ClinVar RCV Id:
RCV001702986
RCV003463060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000294.1:p.Arg21Gly
CA7893860
NM_000303.3:c.61C>G