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: PA2580355103

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2201287

ClinVar RCV Id: RCV002629582

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro4342Ser	CA6910036 NM_014363.6:c.13024C>T