ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827521478
Gene: KIAA0319
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337339.1:p.Ala159Thr
CA3657718
NM_001350410.2:c.475G>A