ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827278172
Gene: KIAA0586
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384328
ClinVar RCV Id:
RCV000418597
RCV002521677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316873.1:p.Arg418Lys
CA16607000
NM_001329944.2:c.1253G>A