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: PA094452

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 38457

ClinVar RCV Id: RCV000032007 RCV001244900

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg3636Gln	CA343112 NM_014363.6:c.10907G>A