Canonical Allele Identifier: PA2499278482
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1256214
ClinVar RCV Id: RCV001663556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro1372Ala
CA387532423
NM_014363.6:c.4114C>G