ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826055937
Gene: KIAA0319
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161846.1:p.Thr133Pro
CA3657847
NM_001168374.2:c.397A>C