ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573159894
Gene: AMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1372895
ClinVar RCV Id:
RCV001874914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000027.3:p.Arg147Cys
CA1020429
NM_000036.3:c.439C>T