ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827277359
Gene: KIAA0586
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204597
ClinVar RCV Id:
RCV000186594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316872.1:p.Asp513Val
CA204051
NM_001329943.3:c.1538A>T