ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825783391
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1004769
ClinVar RCV Id:
RCV001301530
RCV002539473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128302.1:p.His369Asp
CA365747670
NM_001134830.2:c.1105C>G