Canonical Allele Identifier: PA645437698
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311500
ClinVar RCV Id: RCV000264951

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Tyr4234His
CA10639217
NM_014363.6:c.12700T>C