ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664686
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448184
ClinVar RCV Id:
RCV000517432
RCV000676353
RCV001834668
RCV002527516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Thr3373Ile
CA6910502
NM_014363.6:c.10118C>T