ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827280483
Gene: KIAA0586
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316875.1:p.Pro1498Leu
CA7206445
NM_001329946.2:c.4493C>T