ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437186
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311574
ClinVar RCV Id:
RCV000260394
RCV000712975
RCV002520874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Gly16Val
CA10643120
NM_014363.6:c.47G>T