ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139732030
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
883217
ClinVar RCV Id:
RCV001113444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Thr3676Ile
CA387510895
NM_014363.6:c.11027C>T