ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826578103
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000665073
ClinVar Variation:
550349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val3153del
CA6910544
NM_001278055.2:c.9457_9459del