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: PA645487347

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_620128.1:p.Thr142Ile	CA16043964 NM_138773.4:c.425C>T