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: PA2580354841

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2138758

ClinVar RCV Id: RCV003066397 RCV004070165

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Met3307Leu	CA6910540 NM_014363.6:c.9919A>C CA387513373 NM_014363.6:c.9919A>T