Allele Registry

Canonical Allele Identifier: PA916008689

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000118233

RCV000304888

RCV000676376

RCV001517662

RCV001847721

ClinVar Variation:

130204

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Asn85Lys	CA155046 NM_001278055.2:c.255T>A CA387551344 NM_001278055.2:c.255T>G