ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826929019
Gene: AMPD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132813
ClinVar RCV Id:
RCV000119282
RCV002515805
RCV003343648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295099.1:p.Arg599His
CA156218
NM_001308170.1:c.1796G>A