Canonical Allele Identifier: PA2741944825
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2751507
ClinVar RCV Id: RCV003589482

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe553Leu
CA6911873
NM_014363.6:c.1659C>G
CA387547345
NM_014363.6:c.1659C>A
CA387547358
NM_014363.6:c.1657T>C