ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471805
Gene: AMPD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
302151
ClinVar RCV Id:
RCV000319903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000471.1:p.Thr130Met
CA5882599
NM_000480.3:c.389C>T