ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826056098
Gene: KIAA0319
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003979022
ClinVar Variation:
3056331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161848.1:p.Ala266Thr
CA3657718
NM_001168376.2:c.796G>A