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: PA2825852656

Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 420991

ClinVar RCV Id: RCV000483324 RCV003333989

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136278.1:p.Gln189His	CA16621223 NM_001142806.1:c.567G>C CA415084328 NM_001142806.1:c.567G>T