ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253512
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001264984.1:p.Ala3927Pro
NM_001278055.2:c.11779G>C