ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645437630
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311513
ClinVar RCV Id:
RCV000273799
RCV003750784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile3355Arg
CA6910515
NM_014363.6:c.10064T>G