ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826578360
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311507
ClinVar RCV Id:
RCV000335796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Pro3509Arg
CA10643108
NM_001278055.2:c.10526C>G