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: PA915978021

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8591

ClinVar RCV Id: RCV000009122 RCV001046660

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Ala588Val	CA119774 NM_001126108.2:c.1763C>T