ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437233
Gene: SACS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
311558
ClinVar RCV Id:
RCV000306464
RCV001288709
RCV001400059
RCV001848105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055178.3:p.Cys638Gly
CA6911820
NM_014363.6:c.1912T>G