ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437197
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411689
ClinVar RCV Id:
RCV000519338
RCV000466492
RCV001271972
RCV004022883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg345Trp
CA6911986
NM_014363.6:c.1033C>T