Canonical Allele Identifier: PA658664597
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448206
ClinVar RCV Id: RCV000518362 RCV001109528 RCV001433538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys1797Asn
CA6911253
NM_014363.6:c.5391G>C
CA387525772
NM_014363.6:c.5391G>T