ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139731799
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970885
ClinVar RCV Id:
RCV001246542
RCV001328751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Thr3359Ile
CA6910510
NM_014363.6:c.10076C>T