ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578832
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663906
ClinVar RCV Id:
RCV000821880
RCV001825662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Pro4148Leu
CA6910057
NM_001278055.2:c.12443C>T