ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645437639
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311511
ClinVar RCV Id:
RCV000304456
RCV001504069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile3526Val
CA6910428
NM_014363.6:c.10576A>G