ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252049
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2015
ClinVar RCV Id:
RCV000002092
RCV000463110
RCV001582460
RCV001172382
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Arg723Gln
CA252048
NM_001134831.2:c.2168G>A