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: PA2826578835

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2833785

ClinVar RCV Id: RCV003752051

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Lys4152Arg	CA387506587 NM_001278055.2:c.12455A>G