ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275589
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204048
ClinVar RCV Id:
RCV000186253
RCV002517831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Ala248Ser
CA275588
NM_000030.3:c.742G>T