ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577531
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ser2318Leu
CA6910914
NM_001278055.2:c.6953C>T