ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645437260
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311549
ClinVar RCV Id:
RCV000283262
RCV002522278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ala1182Val
CA6911512
NM_014363.6:c.3545C>T