ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437277
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311545
ClinVar RCV Id:
RCV000323040
RCV000884011
RCV001848103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Ala1373Pro
CA6911431
NM_014363.6:c.4117G>C