Canonical Allele Identifier: PA2580354744
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2333713
ClinVar RCV Id: RCV002935776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro2948Ser
CA6910708
NM_014363.6:c.8842C>T