ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826928981
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_001295099.1:p.Ser472Leu
CA993115
NM_001308170.1:c.1415C>T