Canonical Allele Identifier: PA2826576020
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 528018
ClinVar RCV Id: RCV000676374 RCV001083526 RCV001112022 RCV003935762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asp177Glu
CA6911995
NM_001278055.2:c.531C>A
CA387550632
NM_001278055.2:c.531C>G