ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081070752
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Pro3303Leu
CA387513394
NM_014363.6:c.9908C>T