ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741945024
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2883001
ClinVar RCV Id:
RCV003750437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Asp2086Asn
CA6911110
NM_014363.6:c.6256G>A