Canonical Allele Identifier: PA645437696
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 235607
ClinVar RCV Id: RCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asn4217Asp
CA6910119
NM_014363.6:c.12649A>G