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: PA2580354234

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2046997

ClinVar RCV Id: RCV002903968

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ser397Gly	CA6911957 NM_014363.6:c.1189A>G