ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580280160
Gene: PGAM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002620.1:p.Arg65Trp
CA5631354
NM_002629.4:c.193C>T