ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826578749
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1932463
ClinVar RCV Id:
RCV002622578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Ile4046Val
CA6910134
NM_001278055.2:c.12136A>G