ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645437698
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311500
ClinVar RCV Id:
RCV000264951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Tyr4234His
CA10639217
NM_014363.6:c.12700T>C