ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828815206
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205796
ClinVar RCV Id:
RCV001246712
RCV001705013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366127.1:p.Arg742Trp
CA315219
NM_001379198.1:c.2224C>T