ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054879
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217546
ClinVar RCV Id:
RCV000201721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Asp675Asn
CA279503
NM_017651.5:c.2023G>A