ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827279776
Gene: KIAA0586
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375973
ClinVar RCV Id:
RCV001885654
RCV004040675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316875.1:p.Glu244Gln
CA7205460
NM_001329946.2:c.730G>C