ClinGen Allele Registry
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Canonical Allele Identifier:
PA128026
Gene: AMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166097.1:p.Arg454His
CA128025
NM_001172626.1:c.1361G>A