ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664526
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458258
ClinVar RCV Id:
RCV000555876
RCV001088901
RCV001271968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg745His
CA6911721
NM_014363.6:c.2234G>A