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: PA2826147509

Gene: SLC12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1026755

ClinVar RCV Id: RCV001327246 RCV003333151

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Pro254Ser	CA7546897 NM_001184832.2:c.760C>T