Canonical Allele Identifier: PA916014155
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 805306

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe2963Leu
CA6910701
NM_014363.6:c.8889C>A
CA387515644
NM_014363.6:c.8889C>G
CA387515648
NM_014363.6:c.8887T>C