ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826577752
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212115
ClinVar RCV Id:
RCV000194652
RCV000230214
RCV000513770
RCV001847873
RCV001815246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Pro2651Gln
CA277355
NM_001278055.2:c.7952C>A