ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826083114
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166290.1:p.Arg318Trp
CA889889
NM_001172819.2:c.952C>T