ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825341460
Gene: AMPD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193613
ClinVar RCV Id:
RCV000173720
RCV001105108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020561.1:p.Ser489Leu
CA239157
NM_001025390.2:c.1466C>T