ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826575927
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949829
ClinVar RCV Id:
RCV001221388
RCV001836169
RCV003294062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Tyr12His
CA387552158
NM_001278055.2:c.34T>C