ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826669139
Gene: KIAA1217
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269699.1:p.Ala597Pro
CA5439892
NM_001282770.2:c.1789G>C