ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437683
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311505
ClinVar RCV Id:
RCV000385354
RCV003750783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Lys3931Arg
CA6910218
NM_014363.6:c.11792A>G