ClinGen Allele Registry
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Canonical Allele Identifier:
PA091306
Gene: AGXT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
200542
ClinVar RCV:
RCV000186330
ClinVar Variation:
204124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Asp243His
CA275733
NM_000030.3:c.727G>C