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: PA2741945238

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2573663

ClinVar RCV Id: RCV003317999

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ser3212Phe	CA387513992 NM_014363.6:c.9635C>T