ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826578908
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052634
ClinVar RCV Id:
RCV001360855
RCV001826003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Lys4262Glu
CA246647968
NM_001278055.2:c.12784A>G