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: PA2826186184

Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2861952

ClinVar RCV Id: RCV003644389

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001180395.1:p.Gln841His	CA399980068 NM_001193466.2:c.2523G>T CA399980070 NM_001193466.2:c.2523G>C