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: PA2825598310

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2806284

ClinVar RCV Id: RCV003679658

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Arg955Pro	CA396002234 NM_001126108.2:c.2864G>C