ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580102547
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203299
ClinVar RCV Id:
RCV002651634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Arg360Trp
CA2209414
NM_000030.3:c.1078C>T