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: PA2825971840

Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 68294

ClinVar RCV Id: RCV000059146 RCV001388583 RCV001813754 RCV002498349

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157750.1:p.Arg300His	CA219364 NM_001164278.2:c.899G>A