ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580354802
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2085420
ClinVar RCV Id:
RCV003005055
RCV004068476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Arg3120His
CA6910632
NM_014363.6:c.9359G>A