Canonical Allele Identifier: PA2826576050
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 287301
ClinVar RCV Id: RCV000392351 RCV000676373 RCV001083937 RCV001782775 RCV003957483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ile209Leu
CA6911977
NM_001278055.2:c.625A>C
CA387550413
NM_001278055.2:c.625A>T