ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054783
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217529
ClinVar RCV Id:
RCV000201728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Asp372Gly
CA279507
NM_017651.5:c.1115A>G