ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827546210
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260861
ClinVar RCV Id:
RCV000246201
RCV000443752
RCV001079300
RCV001157232
RCV003891955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337433.1:p.Pro242Ser
CA4012775
NM_001350504.2:c.724C>T