ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658816615
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
512616
ClinVar RCV Id:
RCV000608290
RCV000861193
RCV001157000
RCV003980163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Asp1179Tyr
CA4011960
NM_017651.5:c.3535G>T