Canonical Allele Identifier: PA2826576221
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1132189
ClinVar RCV Id: RCV001466352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Phe430Leu
CA6911858
NM_001278055.2:c.1290C>G
CA6911859
NM_001278055.2:c.1288T>C
CA387546937
NM_001278055.2:c.1290C>A