ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916014090
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805303
ClinVar RCV Id:
RCV000992797
RCV004030147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Leu2404Val
CA387519803
NM_014363.6:c.7210T>G