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: PA2825408426

Gene: SLC12A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5331

ClinVar RCV Id: RCV000005657 RCV000790223 RCV002512812

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035960.1:p.Arg148Cys	CA253467 NM_001042495.2:c.442C>T