ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354599
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2414009
ClinVar RCV Id:
RCV003106342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp2228Gly
CA246657817
NM_014363.6:c.6683A>G