ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828290470
Gene: AMPD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2181065
ClinVar RCV Id:
RCV002605949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355738.1:p.Ser493Leu
CA993115
NM_001368809.2:c.1478C>T