ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139690334
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166290.1:p.Arg96Gln
CA340635358
NM_001172819.2:c.287G>A