Canonical Allele Identifier: PA891856175
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe4050Leu
CA6910176
NM_014363.6:c.12148T>C
CA387508381
NM_014363.6:c.12150T>G
CA387508382
NM_014363.6:c.12150T>A