ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054832
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000023740
RCV002513203
ClinVar Variation:
30761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Arg495His
CA259902
NM_017651.5:c.1484G>A