ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826578866
Gene: SACS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
494100
ClinVar RCV:
RCV000593745
RCV000671806
RCV002232237
RCV002532677
ClinVar Variation:
502677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264984.1:p.Glu4196Lys
CA6910035
NM_001278055.2:c.12586G>A