ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA151703
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128324
ClinVar RCV Id:
RCV000116287
RCV000386088
RCV000987787
RCV001095102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Arg830Trp
CA151702
NM_001134831.2:c.2488C>T