ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826577123
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
437952
ClinVar RCV:
RCV000513129
RCV001275193
RCV002527402
ClinVar Variation:
444312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Thr1764Met
CA6911204
NM_001278055.2:c.5291C>T