ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247931
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198982
ClinVar RCV Id:
RCV000186341
RCV000587981
RCV002265666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Arg289His
CA247930
NM_000030.3:c.866G>A