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: PA2826362113

Gene: SLC52A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246564

ClinVar RCV Id: RCV000236546 RCV001233090

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001240745.1:p.Cys126Gly	CA4938178 NM_001253816.2:c.376T>G