ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826966241
Gene: PGAM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304008.1:p.Arg50Trp
CA5631354
NM_001317079.2:c.148C>T