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: PA2829763921

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1497525

ClinVar RCV Id: RCV001996125 RCV002642037

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu1087Phe	CA387536210 NM_014363.6:c.3261A>T CA387536212 NM_014363.6:c.3261A>C