ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827546703
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217549
ClinVar RCV Id:
RCV000201756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337433.1:p.Val902Asp
CA277806
NM_001350504.2:c.2705T>A