ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827521274
Gene: KIAA0319
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337336.1:p.Thr142Pro
CA3657847
NM_001350407.2:c.424A>C