Canonical Allele Identifier: PA658664613
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448213
ClinVar RCV Id: RCV000518824 RCV001276939 RCV002060257
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu2028Asp
CA6911139
NM_014363.6:c.6084A>T
CA387523936
NM_014363.6:c.6084A>C