Canonical Allele Identifier: PA2741945523
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2966729
ClinVar RCV Id: RCV003828863

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Met4575Ile
CA6909929
NM_014363.6:c.13725G>A
CA387504611
NM_014363.6:c.13725G>C
CA387504612
NM_014363.6:c.13725G>T