ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826576912
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436632
ClinVar RCV Id:
RCV000503684
RCV000765124
RCV000551798
RCV001848875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Glu1487Gln
CA6911327
NM_001278055.2:c.4459G>C