ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826442221
Gene: AMPD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183289
ClinVar RCV Id:
RCV000162110
RCV002515123
RCV003984820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244290.1:p.Arg422Gln
CA249914
NM_001257361.2:c.1265G>A