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: PA2826657041

Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 235844

ClinVar RCV Id: RCV000224884

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269551.1:p.Ala717Pro	CA10581464 NM_001282622.3:c.2149G>C