ClinGen Allele Registry
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Canonical Allele Identifier:
PA645437291
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436632
ClinVar RCV Id:
RCV000503684
RCV000765124
RCV000551798
RCV001848875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Glu1634Gln
CA6911327
NM_014363.6:c.4900G>C