ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578341
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311508
ClinVar RCV Id:
RCV000392204
RCV000518679
RCV000633069
RCV001573868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile3485Met
CA6910375
NM_001278055.2:c.10455A>G