ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825785227
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1473041
ClinVar RCV Id:
RCV002005153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128304.1:p.Arg596His
CA4012506
NM_001134832.2:c.1787G>A