Canonical Allele Identifier: PA253519
Gene: SACS HGNC NCBI
ClinVar RCV:
RCV000005855
ClinVar Variation:
5520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Phe907Ser
CA253518
NM_001278055.2:c.2720T>C