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: PA2828076967

Gene: SLC52A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 664998

ClinVar RCV Id: RCV000823198

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350050.1:p.Leu94Val	CA372626680 NM_001363121.2:c.280C>G