ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580354842
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003108352
ClinVar Variation:
2414517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile3309Val
CA387513358
NM_014363.6:c.9925A>G