ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354251
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2297554
ClinVar RCV Id:
RCV002882351
RCV003588853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Glu455Lys
CA6911925
NM_014363.6:c.1363G>A