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: PA2825595802

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 209191

ClinVar RCV Id: RCV000191129 RCV000681951

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119579.2:p.Leu271Pro	CA250393 NM_001126107.2:c.812T>C