ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827521147
Gene: KIAA0319
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337334.1:p.Ala311Thr
CA3657718
NM_001350405.2:c.931G>A