ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827546024
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000310232
RCV001309958
RCV002523549
ClinVar Variation:
355495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Arg1181Gln
CA4011958
NM_001350503.2:c.3542G>A