Allele Registry

Canonical Allele Identifier: PA094423

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000005849

ClinVar Variation:

5514

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala4074Pro	CA253511 NM_014363.6:c.12220G>C