Canonical Allele Identifier: PA658664612
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448212
ClinVar RCV Id: RCV000516670 RCV001112183 RCV001848894 RCV001082654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys2017Asn
CA6911147
NM_014363.6:c.6051G>C
CA387524006
NM_014363.6:c.6051G>T