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: PA2573259251

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1391884

ClinVar RCV Id: RCV001911105 RCV003365510

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asp1346His	CA6911442 NM_014363.6:c.4036G>C