ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139699849
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550523
ClinVar RCV Id:
RCV000665289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Leu978del
CA658823482
NM_001278055.2:c.2931_2933del