ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425293
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383368
ClinVar RCV Id:
RCV000436183
RCV001276582
RCV003243122
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Ala248Val
CA2209225
NM_000030.3:c.743C>T