ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827521072
Gene: KIAA0319
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003979022
ClinVar Variation:
3056331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337333.1:p.Ala305Thr
CA3657718
NM_001350404.2:c.913G>A