ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664710
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458252
ClinVar RCV Id:
RCV000538311
RCV001835845
RCV002473047
RCV002527683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ala3906Val
CA6910234
NM_014363.6:c.11717C>T