ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658664614
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448214
ClinVar RCV Id:
RCV000516945
RCV001276938
RCV002527521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ser2089Leu
CA6911108
NM_014363.6:c.6266C>T