ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825784790
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000608290
RCV000861193
RCV001157000
RCV003980163
ClinVar Variation:
512616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.Asp1179Tyr
CA4011960
NM_001134831.2:c.3535G>T