ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275788
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204149
ClinVar RCV Id:
RCV000186356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Ala383Asp
CA275787
NM_000030.3:c.1148C>A