ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658664684
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
441595
ClinVar RCV:
RCV000518073
RCV000560872
RCV001113533
ClinVar Variation:
448229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg3184Cys
CA6910606
NM_014363.6:c.9550C>T