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: PA2573090649

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1307754

ClinVar RCV Id: RCV001772609 RCV002034472

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ser777Pro	CA6911708 NM_014363.6:c.2329T>C