ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827546136
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391535
ClinVar RCV Id:
RCV000427341
RCV000527501
RCV001151771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337433.1:p.Pro134Ser
CA4012837
NM_001350504.2:c.400C>T