ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828815282
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2502528
ClinVar RCV Id:
RCV003229201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366127.1:p.Ser832Tyr
CA8618552
NM_001379198.1:c.2495C>A