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: PA645449312

Gene: SLC6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421676

ClinVar RCV Id: RCV000481964 RCV003444551

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003033.3:p.Gln106Arg	CA16617797 NM_003042.4:c.317A>G