ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826070411
Gene: AMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2046342
ClinVar RCV Id:
RCV002886616
RCV003542375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166097.2:p.Val440Ile
CA1020153
NM_001172626.2:c.1318G>A