ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825783615
Gene: AHI1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
214243
ClinVar RCV:
RCV000201635
RCV001731519
RCV003495117
ClinVar Variation:
217528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128302.1:p.Thr671Ile
CA277741
NM_001134830.2:c.2012C>T