Canonical Allele Identifier: PA2580354418
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu1304Phe
CA6911459
NM_014363.6:c.3912G>T
CA387533285
NM_014363.6:c.3912G>C