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: PA2828076183

Gene: SLC52A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1006486

ClinVar RCV Id: RCV001303535

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350047.1:p.Ala124Val	CA4938176 NM_001363118.2:c.371C>T