Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA915984068

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205796

ClinVar RCV Id: RCV001246712 RCV001705013

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056258.1:p.Arg742Trp	CA315219 NM_015443.4:c.2224C>T