ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580355075
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1909618
ClinVar RCV Id:
RCV002587498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Thr4270Ile
CA6910082
NM_014363.6:c.12809C>T