ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200742
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193711
ClinVar RCV Id:
RCV000173862
RCV000224353
RCV001084232
RCV001274927
RCV001847804
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Lys2958Arg
CA200741
NM_014363.6:c.8873A>G