ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826070637
Gene: AMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139645
ClinVar RCV Id:
RCV003052703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166097.2:p.Arg724His
CA1019907
NM_001172626.2:c.2171G>A