Canonical Allele Identifier: PA645437249
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311553
ClinVar RCV Id: RCV000313588 RCV000700339 RCV003165837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile930Val
CA10639237
NM_014363.6:c.2788A>G