ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437610
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240904
ClinVar RCV Id:
RCV000232996
RCV000295984
RCV002518350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile3011Val
CA6910674
NM_014363.6:c.9031A>G