ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577872
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448227
ClinVar RCV Id:
RCV000518535
RCV000765119
RCV001085517
RCV001644612
RCV001848898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Arg2844His
CA6910684
NM_001278055.2:c.8531G>A