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: PA916019419

Gene: SLC25A46 HGNC NCBI

Linked Data

ClinVar Variation Id: 374894

ClinVar RCV Id: RCV000415525

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001290179.1:p.Thr51Ile	CA16043964 NM_001303250.3:c.152C>T