ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578777
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568311
ClinVar RCV Id:
RCV000688629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp4081His
CA387507156
NM_001278055.2:c.12241G>C