ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826577013
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2885752
ClinVar RCV Id:
RCV003750485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Val1623Met
CA6911266
NM_001278055.2:c.4867G>A