Canonical Allele Identifier: PA658664479
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 450379
ClinVar RCV Id: RCV000522663 RCV000674847 RCV001224412 RCV003323587
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ser208Ile
CA246678645
NM_014363.6:c.623G>T