ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578240
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3004956
ClinVar RCV Id:
RCV003861059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile3351Met
CA6910440
NM_001278055.2:c.10053C>G