ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354870
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1929660
ClinVar RCV Id:
RCV002626401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile3485Thr
CA6910449
NM_014363.6:c.10454T>C