Canonical Allele Identifier: PA645437278
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 235380
ClinVar RCV Id: RCV000290021 RCV000224523 RCV001112284 RCV001084237 RCV001847949
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala1373Val
CA6911430
NM_014363.6:c.4118C>T