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: PA658831566

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 552808

ClinVar RCV Id: RCV000668142

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Met2077del	CA658823541 NM_014363.6:c.6231_6233del