ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826070484
Gene: AMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2043488
ClinVar RCV Id:
RCV002913034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166097.2:p.Pro524Leu
CA341746907
NM_001172626.2:c.1571C>T