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: PA2826797129

Gene: KDM6A HGNC NCBI

Linked Data

ClinVar Variation Id: 397533

ClinVar RCV Id: RCV000449529

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278345.1:p.Leu1207Phe	CA16609406 NM_001291416.2:c.3619C>T