Canonical Allele Identifier: PA658664615
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448215
ClinVar RCV Id: RCV001080771 RCV000517696 RCV001111736 RCV001848895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2112Ser
CA6911101
NM_014363.6:c.6336A>C
CA387523380
NM_014363.6:c.6336A>T