ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828814721
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
845446
ClinVar RCV Id:
RCV001048513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366127.1:p.Ala148Thr
CA8619053
NM_001379198.1:c.442G>A