ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437211
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311567
ClinVar RCV Id:
RCV000293298
RCV000992772
RCV001500911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Lys361Glu
CA6911975
NM_014363.6:c.1081A>G