ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499278509
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1176616
ClinVar RCV Id:
RCV001532229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.His3458Tyr
CA387512359
NM_014363.6:c.10372C>T