ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826576049
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311568
ClinVar RCV Id:
RCV000348179
RCV001660628
RCV001848108
RCV002522279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile209Val
CA6911978
NM_001278055.2:c.625A>G