ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736390
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867068
ClinVar RCV Id:
RCV001075578
RCV002497491
RCV002554762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Asp828Ala
CA365742550
NM_017651.5:c.2483A>C