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: PA2826185624

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392273

ClinVar RCV Id: RCV000442828 RCV000697747 RCV002525488

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180394.1:p.Thr1017Ile	CA8618394 NM_001193465.2:c.3050C>T