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: PA2827495672

Gene: SETD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 809413

ClinVar RCV Id: RCV000997978 RCV003338898

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336380.1:p.Tyr1222His	CA2239841 NM_001349451.2:c.3664T>C