ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664684
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448229
ClinVar RCV Id:
RCV000518073
RCV000560872
RCV001113533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg3184Cys
CA6910606
NM_014363.6:c.9550C>T