ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741946552
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_055624.2:p.Ala311Thr
CA3657718
NM_014809.4:c.931G>A