Canonical Allele Identifier: PA2499278490
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 989211
ClinVar RCV Id: RCV001391623 RCV001880217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro2217Gln
CA387521064
NM_014363.6:c.6650C>A