ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826578545
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429909
ClinVar RCV Id:
RCV000494097
RCV001829412
RCV002527093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp3766His
CA6910228
NM_001278055.2:c.11296G>C