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: PA2825143250

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585272

ClinVar RCV Id: RCV003337888

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Thr465Asn	CA8069454 NM_000339.3:c.1394C>A