ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658664663
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458276
ClinVar RCV Id:
RCV000530318
RCV001274928
RCV002525291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg2898His
CA6910731
NM_014363.6:c.8693G>A