ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826083116
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166290.1:p.Leu319Pro
CA156390
NM_001172819.2:c.956T>C