ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008697
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193712
ClinVar RCV Id:
RCV000173863
RCV001080295
RCV001277261
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asn878Ile
CA239318
NM_001278055.2:c.2633A>T