ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092262
Gene: AMPD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019932
RCV003952365
ClinVar Variation:
18270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020560.1:p.Arg573Cys
CA128020
NM_001025389.2:c.1717C>T