ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354385
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2190611
ClinVar RCV Id:
RCV002628151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.His1206Tyr
CA6911499
NM_014363.6:c.3616C>T