Canonical Allele Identifier: PA645437264
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 282906
ClinVar RCV Id: RCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile1251Thr
CA6911480
NM_014363.6:c.3752T>C