ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827545792
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008642
ClinVar RCV Id:
RCV001306007
RCV002255179
RCV003232295
RCV002543146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Thr850Ala
CA4012344
NM_001350503.2:c.2548A>G