ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354485
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2304978
ClinVar RCV Id:
RCV002874355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Val1770Gly
CA246659289
NM_014363.6:c.5309T>G