ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354584
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1945689
ClinVar RCV Id:
RCV002667312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp2138Val
CA6911085
NM_014363.6:c.6413A>T