ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241004
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166289.1:p.Gly348Arg
CA889678
NM_001172818.1:c.1042G>C