ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437232
Gene: SACS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Pro547Leu
CA6911879
NM_014363.6:c.1640C>T