ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826070481
Gene: AMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1930284
ClinVar RCV Id:
RCV002618865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166097.2:p.Phe519Ser
CA341747005
NM_001172626.2:c.1556T>C