Canonical Allele Identifier: PA2741945033
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2663505
ClinVar RCV Id: RCV003442693

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val2168Leu
CA387521617
NM_014363.6:c.6502G>T
CA387521619
NM_014363.6:c.6502G>C