Canonical Allele Identifier: PA2826578099
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311514
ClinVar RCV Id: RCV000388007 RCV003588614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro3149Leu
CA6910546
NM_001278055.2:c.9446C>T