ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825784519
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286969
ClinVar RCV Id:
RCV000366873
RCV001049633
RCV002502139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Thr765Ile
CA4012402
NM_001134831.2:c.2294C>T