ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008674
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657962
ClinVar RCV Id:
RCV000814678
RCV001825636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val40Phe
CA387551963
NM_001278055.2:c.118G>T