ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354525
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1952121
ClinVar RCV Id:
RCV002695207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp1966Asn
CA6911178
NM_014363.6:c.5896G>A