ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827545221
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451593
ClinVar RCV Id:
RCV000518979
RCV001295361
RCV003139738
RCV004023597
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Ile74Asn
CA4012871
NM_001350503.2:c.221T>A