Canonical Allele Identifier: PA2826577193
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448211
ClinVar RCV Id: RCV000518243 RCV000803901 RCV001783017 RCV003960224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Lys1863Asn
CA6911148
NM_001278055.2:c.5589G>T
CA387524054
NM_001278055.2:c.5589G>C