ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830275843
Gene: AMPD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_631895.1:p.Arg593Ser
CA341561829
NM_139156.4:c.1777C>A