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: PA2828814836

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514645

ClinVar RCV Id: RCV000607548 RCV001855236

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366127.1:p.Ser268Phe	CA399980675 NM_001379198.1:c.803C>T