ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664541
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448199
ClinVar RCV Id:
RCV000516574
RCV001081341
RCV001109615
RCV001848892
RCV001644611
RCV003905307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg976Ser
CA6911590
NM_014363.6:c.2926C>A