Canonical Allele Identifier: PA2826578376
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 260391
ClinVar RCV Id: RCV000254240 RCV000398344 RCV000456504 RCV000676350 RCV001848026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro3531Ala
CA6910351
NM_001278055.2:c.10591C>G