ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825785294
Gene: AHI1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
214242
ClinVar RCV:
RCV000201721
ClinVar Variation:
217546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128304.1:p.Asp675Asn
CA279503
NM_001134832.2:c.2023G>A