ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830275802
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_631895.1:p.Ser466Leu
CA993115
NM_139156.4:c.1397C>T