ClinGen Allele Registry
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Canonical Allele Identifier:
PA916014217
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
696178
ClinVar RCV Id:
RCV000862368
RCV001109205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Thr3433Ile
CA6910470
NM_014363.6:c.10298C>T