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: PA915984147

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 137970

ClinVar RCV Id: RCV000126399 RCV000475417 RCV003407535

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056258.1:p.Gly900Arg	CA291707 NM_015443.4:c.2698G>A CA291127344 NM_015443.4:c.2698G>C