ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139731944
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
884011
ClinVar RCV Id:
RCV001114842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Glu3512Gln
CA387511998
NM_014363.6:c.10534G>C