ClinGen Allele Registry
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Canonical Allele Identifier:
PA913193241
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
623825
ClinVar RCV Id:
RCV000761851
RCV001241078
RCV001111443
RCV001849092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Pro3689Gln
CA6910344
NM_014363.6:c.11066C>A