ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580181428
Gene: AMPD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244289.1:p.Glu779Lys
CA341562803
NM_001257360.2:c.2335G>A