Canonical Allele Identifier: PA1139730658
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe1614Leu
CA6911339
NM_014363.6:c.4840T>C
CA387527335
NM_014363.6:c.4842T>G
CA387527337
NM_014363.6:c.4842T>A