ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825785291
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217528
ClinVar RCV Id:
RCV000201635
RCV001731519
RCV003495117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128304.1:p.Thr671Ile
CA277741
NM_001134832.2:c.2012C>T