ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825785399
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438081
ClinVar RCV Id:
RCV000504989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128304.1:p.Pro810Leu
CA365742781
NM_001134832.2:c.2429C>T