Canonical Allele Identifier: PA2741945282
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2919465
ClinVar RCV Id: RCV003751591

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu3398Phe
CA387512752
NM_014363.6:c.10194G>T
CA387512753
NM_014363.6:c.10194G>C