ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094611
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212115
ClinVar RCV Id:
RCV000194652
RCV000230214
RCV000513770
RCV001847873
RCV001815246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Pro2798Gln
CA277355
NM_014363.6:c.8393C>A