ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827279835
Gene: KIAA0586
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475436
ClinVar RCV Id:
RCV000533867
RCV004024331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316875.1:p.Val349Ile
CA7205542
NM_001329946.2:c.1045G>A