Canonical Allele Identifier: PA207003
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 212109
ClinVar RCV Id: RCV000193480 RCV000230933 RCV000278445 RCV001079338 RCV001847870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala3661Val
CA207002
NM_014363.6:c.10982C>T