ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139731932
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
884013
ClinVar RCV Id:
RCV001114844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ser3505Pro
CA387512044
NM_014363.6:c.10513T>C