ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139725942
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838549
ClinVar RCV Id:
RCV001040119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056258.1:p.Ser165Leu
CA8619046
NM_015443.4:c.494C>T