ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063889580
Gene: AMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000027.3:p.Lys287Arg
CA341750051
NM_000036.3:c.860A>G