ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916014218
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644141
ClinVar RCV Id:
RCV000797994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Lys3443Gln
CA246652566
NM_014363.6:c.10327A>C