ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827546198
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445436
ClinVar RCV Id:
RCV000514800
RCV001088814
RCV001157234
RCV002222540
RCV003915428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337433.1:p.Tyr218Cys
CA4012791
NM_001350504.2:c.653A>G