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: PA915977765

Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 653275

ClinVar RCV Id: RCV000809019 RCV001825611

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.His90Tyr	CA395977799 NM_001126108.2:c.268C>T