ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577524
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Met2312Thr
CA6910917
NM_001278055.2:c.6935T>C