ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580355153
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2200977
ClinVar RCV Id:
RCV002638489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile4567Val
CA387504673
NM_014363.6:c.13699A>G