ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664624
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458271
ClinVar RCV Id:
RCV000532956
RCV001834758
RCV004023781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ile2198Thr
CA6911056
NM_014363.6:c.6593T>C