ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3064205442
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002624.2:p.Leu516Gln
CA340639618
NM_002633.3:c.1547T>A