ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577009
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3157480
ClinVar RCV Id:
RCV004447323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.His1622Tyr
CA387525961
NM_001278055.2:c.4864C>T