ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829782390
Gene: KIAA0586
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055564.3:p.Val349Ile
CA7205542
NM_014749.3:c.1045G>A