ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249939
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012
ClinVar RCV Id:
RCV000002089
RCV000162132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Val443Asp
CA249938
NM_001134831.2:c.1328T>A