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: PA658810606

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 508468

ClinVar RCV Id: RCV000601324 RCV000694068

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180395.1:p.Pro835Ser	CA399980190 NM_001193466.2:c.2503C>T