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: PA2825143357

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780347

ClinVar RCV Id: RCV003665649

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Trp558Arg	CA395990245 NM_000339.3:c.1672T>A CA395990247 NM_000339.3:c.1672T>C