ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094531
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Leu3481Pro
CA387512205
NM_014363.6:c.10442T>C