ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA128021
Gene: AMPD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000471.1:p.Arg582Cys
CA128020
NM_000480.3:c.1744C>T