ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827545406
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2056814
ClinVar RCV Id:
RCV002923034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Pro335Thr
CA365747896
NM_001350503.2:c.1003C>A