ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827545397
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284422
ClinVar RCV Id:
RCV000313832
RCV000357466
RCV001095106
RCV003930096
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Arg329Leu
CA4012693
NM_001350503.2:c.986G>T