Allele Registry

Canonical Allele Identifier: PA155047

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000118233

RCV000304888

RCV000676376

RCV001517662

RCV001847721

ClinVar Variation:

130204

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asn232Lys	CA155046 NM_014363.6:c.696T>A CA387551344 NM_014363.6:c.696T>G