ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103533
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_000027.3:p.Arg728His
CA1019907
NM_000036.3:c.2183G>A