ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279429
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217548
ClinVar RCV Id:
RCV000201632
RCV000414742
RCV001051208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Asp666Val
CA279428
NM_001134831.2:c.1997A>T