ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741864278
Gene: KIAA0319
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337335.1:p.Thr97Pro
CA3657847
NM_001350406.2:c.289A>C