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: PA102239

Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56000

ClinVar RCV Id: RCV000049409 RCV003556127

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000102.1:p.Pro131Leu	CA144099 NM_000111.3:c.392C>T