ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354740
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2200698
ClinVar RCV Id:
RCV002644201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Pro2935Leu
CA6910714
NM_014363.6:c.8804C>T