ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091319
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5646
ClinVar RCV Id:
RCV000006000
RCV000586265
RCV000662316
RCV001042614
RCV003407286
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Ile244Thr
CA340445
NM_000030.3:c.731T>C