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: PA109544

Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 188998

ClinVar RCV Id: RCV000169378 RCV000505875 RCV001580204

ClinVar Variation Id: 2018278

ClinVar RCV Id: RCV002830194

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000432.1:p.Ser28Arg	CA274233 NM_000441.2:c.84C>A CA164207259 NM_000441.2:c.84C>G CA368844990 NM_000441.2:c.82A>C