ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580181415
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_001244289.1:p.Ser547Leu
CA993115
NM_001257360.2:c.1640C>T