ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354768
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2188795
ClinVar RCV Id:
RCV002620501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg3057Lys
CA246653547
NM_014363.6:c.9170G>A