ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354524
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2074884
ClinVar RCV Id:
RCV002963117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp1955Gly
CA6911183
NM_014363.6:c.5864A>G