ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354908
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Pro3689Leu
CA6910343
NM_014363.6:c.11066C>T