Canonical Allele Identifier: PA2826578349
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2830923
ClinVar RCV Id: RCV003752014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu3492Phe
CA6910370
NM_001278055.2:c.10476G>C
CA387511133
NM_001278055.2:c.10476G>T