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: PA2827435084

Gene: SLC6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426798

ClinVar RCV Id: RCV000489777 RCV003444553

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335179.1:p.Gly79Arg	CA351788472 NM_001348250.2:c.235G>A CA351788473 NM_001348250.2:c.235G>C