ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578736
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3157472
ClinVar RCV Id:
RCV004447315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Thr4020Ala
CA6910140
NM_001278055.2:c.12058A>G