ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827546387
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30761
ClinVar RCV Id:
RCV000023740
RCV002513203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337433.1:p.Arg495His
CA259902
NM_001350504.2:c.1484G>A