ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577146
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377134
ClinVar RCV Id:
RCV000434730
RCV001828396
RCV001851025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Asp1801Asn
CA6911188
NM_001278055.2:c.5401G>A