ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103513
Gene: AMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000027.3:p.Leu706Val
CA341742716
NM_000036.3:c.2116C>G