ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499278524
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052634
ClinVar RCV Id:
RCV001360855
RCV001826003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Lys4409Glu
CA246647968
NM_014363.6:c.13225A>G