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: PA915978041

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 267286

ClinVar RCV Id: RCV000576776 RCV003556306

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Asn640Ser	CA281505366 NM_001126108.2:c.1919A>G