Canonical Allele Identifier: PA2580355152
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2154962
ClinVar RCV Id: RCV003072087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Met4558Ile
CA387504732
NM_014363.6:c.13674G>T
CA387504733
NM_014363.6:c.13674G>A
CA387504734
NM_014363.6:c.13674G>C