Canonical Allele Identifier: PA2826577197
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448212
ClinVar RCV Id: RCV000516670 RCV001112183 RCV001848894 RCV001082654
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Lys1870Asn
CA6911147
NM_001278055.2:c.5610G>C
CA387524006
NM_001278055.2:c.5610G>T