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: PA2827793484

Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 419589

ClinVar RCV Id: RCV000486573

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340911.1:p.His513Leu	CA16621434 NM_001353982.2:c.1538A>T