ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827546518
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217548
ClinVar RCV Id:
RCV000201632
RCV000414742
RCV001051208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337433.1:p.Asp666Val
CA279428
NM_001350504.2:c.1997A>T