ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825783760
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
813946
ClinVar RCV Id:
RCV001004929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128302.1:p.Leu858Pro
CA365742185
NM_001134830.2:c.2573T>C