ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827280564
Gene: KIAA0586
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375547
ClinVar RCV Id:
RCV001879720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316876.1:p.Glu107Lys
CA389859617
NM_001329947.2:c.319G>A